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Molecular geneticists identify genes associated with specific functions, diseases, and disorders. They identify genetic mutations on a molecular level and establish genotypes to better understand the nature of genetic makeup. Some molecular geneticists work to develop new diagnostic tests based on DNA analysis.

The most common activity undertaken by molecular geneticists is identifying the causes of congenital disease and determining what roles environmental conditions play in their development. Their hope is to devise ways to minimize or even eliminate the presence of these disorders in humans.

Molecular geneticists use cutting edge equipment and techniques to gather, replicate, and analyze DNA. After testing is complete, they produce reports summarizing their findings and share them with colleagues. By gathering enough information, geneticists can form new understandings and methods for addressing genetic diseases and disorders.

Given the abundance of information coming from the Human Genome Project, opportunities in the field of molecular genetics will continue to expand. As genetic testing becomes more commonplace, more molecular geneticists will be needed to conduct and evaluate tests and their results.

Molecular geneticists work in laboratories associated with hospitals, universities, and medical research centers. They typically work with a team of assistants and related specialists. Their work demands familiarity with sophisticated equipment and methods, about which they are expected to continue learning throughout their careers.

Molecular geneticists are most frequently employed by hospitals, though universities and government agencies are also common employers. There is limited employment by private corporations.

A typical Salary Range for this career is $35,620 - $101,030 annually.

The Median Income for this career is about $65,080 annually.

A Bachelor's degree is the minimum expected of molecular geneticists. The best opportunities are available to those who obtain at least a Ph.D. or M.D. One's Bachelor's and Master's degrees should be in genetics or molecular biology, complemented by courses in biochemistry, biomedical science, and biotechnology.

Experience is a key factor in job opportunities. Those with significant experience in laboratory settings will have a competitive edge.

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Genomic Career: Molecular Geneticist ($35,620-$101,030)

The Ohio State University Department of Molecular Genetics is comprised of a diverse group of researchers and faculty that utilize genetics, genomics, molecular biologyand model organisms to address fundamental issues in 21st century biology.

We have a significant opportunity here to increase the scientific literacy and competency of our students and to reach out and attract and nurture the next generations of scientists.

{AnitaHopper, Professor, Molecular Genetics}

30 full time (Many have joint appointments in other areas)

250 (80 in Honors)

40 PhD students

Undergraduate research is highly encouraged; students are matched with faculty mentors.

Undergraduate: BSGraduate: MS, PhD

Molecular geneticist Susan Cole and biochemist Jane Jackman co-direct the National Science Foundations 10-week summer program, Research Experience for Undergraduates (REU), partnering with biochemistry.

REU is an opportunity for science majors from smaller institutions to do intellectually demanding research in leading-edge labs, giving them better preparation for graduate or professional school.

In 2000, Professor Amanda Simcox and her undergraduate students field-tested an idea to get high school biology students interested and excited about science. The DNA Fingerprinting Workshops consist of two components: first, a session that gives the students hands-on-experience with state-of-the-art equipment and molecular-biology techniques. The second part involves setting up a crime scene scenario that students can solve using the DNA fingerprinting techniques they have learned. Undergraduate students take a class with Simcox and learn how to go into the schools to mentor and teach the high school students. This service learning experience is still going strong after 17 years and now under the direction of Professor Amanda Bird.

Annual Falkenthal Spring Symposium: A departmental event that showcases graduate student research presentations. In addition, an alumnus/ alumna is invited each year to be the keynote speaker at this event, connecting our past with the future.

The basic research that goes on in our laboratories has broad and important implications for citizens of Ohio and the world. Some examples include:

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Molecular Genetics, Department of | College of Arts and ...

Definition

noun

A branch of genetics that deal with the structure and function of genes at a molecular level

Supplement

Genetics is a basically a study in heredity, particularly the mechanisms of hereditary transmission, and the variation of inherited characteristics among similar or related organisms. Some of the branches of genetics include behavioural genetics, classical genetics, cytogenetics, molecular genetics, developmental genetics, and population genetics.

Molecular genetics, in particular, is a study of heredity and variation at the molecular level. It is focused on the flow and regulation of genetic information between DNA,RNA, andproteins. Its sub-fields are genomics (i.e. the study of all the nucleotide sequences, including structural genes, regulatory sequences, and noncoding DNA segments, in the chromosomes of an organism) and proteomics (i.e. the study of proteins from DNA replication). The different techniques employed in molecular genetics include amplification, polymerase chain reaction, DNA cloning, DNA isolation, mRNA isolation, and so on. Molecular genetics is essential in understanding and treating genetic disorders. It is regarded as the most advanced field of genetics. The Human Genome Project was a large scientific research endeavor in molecular genetics. It began in 1990s and finished in 2003 with the intent of identifying the genes and the sequences of chemical base pairs in human DNA.

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Molecular genetics - Biology-Online Dictionary

BCM is a rare genetic disease of the retina caused by genetics mutations on genes OPN1LW, OPN1MW and LCR. These genes encoded proteins called photopigments, needed in the red and green cones to capture the light and are located on the X chromosome.

On this page we will see what are the genes responsible for color vision, what are the genetic mutations that lead to disease and the history of these scientific discoveries of molecular genetics.

The BCM Families Foundation supports the research of Molecular Genetics on BCM and the creation of a BCM Patients Registry, in order to deepen the knowledge about the genes and the genetic mutations that cause disease.

Molecular genetics of human color vision

BCM is inherited from the X chromosome. As any other chromosome, X contains a long molecule of DNA, the chemical of which genes are made.

The X chromosome is composed of two arms, the upper is called p, the lower q.The genes involved in the BCM are in position Xq28, at the end of the q arm.In the figure below we see the X chromosome:

In the position Xq28 there are in order, the genes named LCR, OPN1LW and OPN1MW.

LCR is the Locus Control Region, and acts as a promoter of the expression of the two opsin genes thereafter. In the absence of this gene, none of the following two genes are expressed in the human retina. In addition, it ensures that only one of the two opsin genes (red or green) is expressed exclusively in each cone.

OPN1LW and OPN1MW are respectively the genes that contain the genetic code for protein opsin. These proteins constitute the photopigments for the capture of light, red (Long Wave) and green (Medium Wave).

Many people have several replicas of the gene for the green photopigment, OPN1MW. Only the first two genes, immediately after the LCR, (the red and the first green ones), are expressed in the retina. Approximately 25% of male Caucasians have a single OPN1MW gene, while 50% have two genes and the remainder have 3 or more genes.

In the following figure we see a representation of the opsin gene array in a normal case:

To learn more about these genes, please refer to the web site of the National Center for Biotechnology Information, NCBI, particularly to:

OPSIN1-LW, red cone photopigment;

OPSIN1-MW, green cone photopigment;

LCR, Locus Control Region.

The gene responsible for the formation of the blue photopigment is in a position far away, on chromosome 7 and the gene responsible for the formation of rhodopsin (the rod photopigment) is located on chromosome 3:

OPSIN1-SW blue cones photopigment;

RODOPSIN rods photopigment.

In the following figure we see the opsin proteins, the blue S (short), the green M (medium) and the red L (Long) one.

OPSIN Genes Picture is taken from handprint.com

They take the form of a chain passing 7 times through a disk of the outer segment of a cone. The three proteins are very similar between them and, in particular, the M and L differ only in some elements that compose them. The two photopigments, red and green are in fact equal to 96%, while they have only a 46% similarity with the blue photopigment.

The genes OPN1LW and OPN1MW, like all genes, are formed by exons and introns. In particular both of these genes have six exons, referred to as 1 to 6.

(Picture is taken from Jessica C. Gardner, Michel Michaelides, Graham E. Holder, Naheed Kanuga, Tom R. Webb, John D. Mollon, Anthony T. Moore, Alison J. Hardcastle Blue cone monochromacy: Causative mutations and associated phenotypesMolecular Vision 2009; 15:876-884).

Like all proteins, the opsin proteins are three-dimensional structures that need to perform a folding to assume their final three-dimensional shape. Some specific amino acids within the protein are responsible for the folding of the same.

The Genetic Mutations

There are many genetic mutations that can affect this group of genes, LCR, OPN1LW and OPN1MW.

Some mutations lead to conditions commonly called color blindness, having as its only effect the inability to distinguish certain colors.

Mutations that lead to the BCM to date identified are the following:

Large deletions

1.Deletion of the LCR, or deletion of the LCR and some or all of the exons of the gene OPN1LW.

This mutation is an absence of a large part of the genetic material. Since there isnt the genetic code for LCR the two opsin proteins will not express and the cones will havent the red and green photopigments.

2.Intragenic deletion. This is a deletion of exons within the genes OPN1LW and OPN1MW or deletion of genetic material of the first and of the second gene.

Even this mutation is an absence of a large part of the genetic material.

Mechanism in 2 steps with homologous recombination and punctual inactivation.

In this case, due to the similarity between the two genes OPN1LW and OPN1MW, during a process of homologous recombination one of the two genes is lost with the creation of an hybrid gene. Subsequently, a point mutation inactivates the remained gene.

The point mutation best known is the so-called C203R. The name of the point mutations indicates the position at which mutation has occurred, in this case the amino acid position 203 and which has been replaced, in this case a C = Cysteine with an R = Arginine. At the level of codons this substitution is timely because it corresponds to replace thymine with cytosine in position 648, as we see from the following table:

The C203R mutation causes the opsin protein once formed does not carry the folding, that is it doesnt take the proper three-dimensional form.

Diagram representing BCM genotypes of 3 British families. The wild type L-M opsin gene array is shown at the top of the figure. Gray boxes represent L opsin exons and white boxes represent M opsin exons.Subscript n represents one or more M opsin genes. The black box represents the Locus Control Region, LCR. The LCR was present without mutation in all three families. The C203R point mutations detected in Family 1 and Family 3 are shown above the corresponding exons. Family 1 has an inactive hybrid gene followed by a second gene in the array. Three possible structures of this second inactive gene are shown in the bracket.Family 2 has a single nonfunctional hybrid gene lacking exon 2. Family 3 has a single inactivehybrid gene.(Picture is taken from Jessica C. Gardner, Michel Michaelides, Graham E. Holder, Naheed Kanuga, Tom R. Webb, John D. Mollon, Anthony T. Moore, Alison J. Hardcastle Blue cone monochromacy: Causative mutations and associated phenotypesMolecular Vision 2009; 15:876-884).

Other point mutations are the P307L, and R247X. The last one replaces arginine with the Stop codon, prematurely stopping at position 247 the formation of the protein (nonsense mutation).

Model of the red and 5 red 2 green hybrid pigments in the photoreceptor membrane showing the locations of point mutations identified in blue-cone monochromats. Each circle represent an amino acid. N = amino-terminus and C = car-body-terminus. The amino-terminus faces the extracellular space.The picture is taken from J. Nathans et al. Am. J. Hum. Genet. 53: 987-1000, 1993.

Other mutations

Other mutations on genes OPN1LW and OPN1MW that lead to the BCM are constituted by a set of point mutations called for example LIAVA. The BCM will be caused by the production of new hybrid gene, like in the previous case, from the homologous recombination of OPN1LW and OPN1MW. In this case exon 3 contains the following amino acids in the positions indicated: 153 Leucine, 171 Isoleucine, 174 Alanine, 178 Valine and 180 Alanine. This genotype has the abbreviated name LIAVA.

Location of amino acid alterations reported thus far in the L and M cone opsin genes. Shaded areas: the transmembrane domains. Circles: amino acid differences and known polymorphism with the more common amino acid (in a one-letter code); arrow: the amino acid change. The codon number is depicted for each change. Missense changes associated with a cone-opsin-related disease that are likely to cause protein dysfunction are on a gray background. The LIAVA haplotype is highlighted in black.La Figura tratta da Mizrahi-Meissonnier L., Merin S., Banin E., Sharon D., 2010.

Other diseases with genetic mutations on genes and OPN1LW OPN1MW

Another disease of the retina that is associated with the position Xq28 is the Bornholm Eye Disease (BED), with symptoms similar to those of the BCM. It is a very rare disease and it is stationary. For further information you can consult OMIM and the web site of University of Arizona.

Finally note there is also a particular mutation of the two genes OPN1LW and OPN1MW which causes a different disease from the BCM. This type of mutation is W177R and is a misfolding mutation that, if present on both opsin genes cause cone dystrophy with evidence of degeneration and cell death of the cones.

The History of the discovery of the genes of the BCM

Many researchers have contributed to discoveries about the genes involved in the BCM.

We recall the fundamental discoveries of Jeremy Nathans on the genes responsible for color vision:

Nathans, J., Thomas, D., Hogness, D. S. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science 232: 193-202, 1986. [PubMed: 2937147, related citations] [Full Text: HighWire Press]

Nathans, J., Piantanida, T. P., Eddy, R. L., Shows, T. B., Hogness, D. S. Molecular genetics of inherited variation in human color vision. Science 232: 203-210, 1986. [PubMed: 3485310, related citations] [Full Text: HighWire Press]

Nathans, J. Molecular biology of visual pigments. Annu. Rev. Neurosci. 10: 163-194, 1987. [PubMed: 3551758, related citations] [Full Text: Atypon]

Nathans, J. The evolution and physiology of human color vision: insights from molecular genetic studies of visual pigments. Neuron. 24: 299-312, 1999. [PubMed: 10571225, related citations] [Full Text: Elsevier Science]

Deeb, S. S. The molecular basis of variation in human color vision. Clin. Genet. 67: 369-377, 2005. [PubMed: 15811001, related citations] [Full Text: Blackwell Publishing]

In particular, the work that led us to understand the main causes of BCM and in particular the 2-step process with point mutation C2013R:

Nathans, J., Davenport, C. M., Maumenee, I. H., Lewis, R. A., Hejtmancik, J. F., Litt, M., Lovrien, E., Weleber, R., Bachynski, B., Zwas, F., Klingaman, R., Fishman, G. Molecular genetics of human blue cone monochromacy. Science 245: 831-838, 1989. [PubMed: 2788922, related citations] [Full Text: HighWire Press]

Nathans, J., Maumenee, I. H., Zrenner, E., Sadowski, B., Sharpe, L. T., Lewis, R. A., Hansen, E., Rosenberg, T., Schwartz, M., Heckenlively, J. R., Traboulsi, E., Klingaman, R., Bech-Hansen, N. T., LaRoche, G. R., Pagon, R. A., Murphey, W. H., Weleber, R. G. Genetic heterogeneity among blue-cone monochromats. Am. J. Hum. Genet. 53: 987-1000, 1993. [PubMed: 8213841, related citations]

Reyniers, E., Van Thienen, M.-N., Meire, F., De Boulle, K., Devries, K., Kestelijn, P., Willems, P. J. Gene conversion between red and defective green opsin gene in blue cone monochromacy. Genomics 29: 323-328, 1995. [PubMed: 8666378, related citations] [Full Text: Elsevier Science, Pubget]

An important work for the type of mutations Deletion of the LCR or LCR and the gene OPN1LW is:

Ayyagari, R., Kakuk, L. E., Bingham, E. L., Szczesny, J. J., Kemp, J., Toda, Y., Felius, J., Sieving, P. A. Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy. Hum. Genet. 107: 75-82, 2000. Hum Genet. 2000 Jul;107(1):75-82.

For the Deletion intragenic the following works identified a case of BCM with the presence of only the gene OPN1LW (red) without the exon 4:

Ladekjaer-Mikkelsen, A.-S., Rosenberg, T., Jorgensen, A. L. A new mechanism in blue cone monochromatism. Hum. Genet. 98: 403-408, 1996.

Reitner, A., Sharpe, L. T., Zrenner, E. Is colour vision possible with only rods and blue-sensitive cones? Nature 352: 798-800, 1991.

The Locus Control Region, and its role in the expression of opsin genes, was the result of the following works:

Lewis, R. A., Holcomb, J. D., Bromley, W. C., Wilson, M. C., Roderick, T. H., Hejtmancik, J. F. Mapping X-linked ophthalmic diseases: III. Provisional assignment of the locus for blue cone monochromacy to Xq28. Arch. Ophthal. 105: 1055-1059, 1987.

Lewis, R. A., Nathans, J., Holcomb, J. D., Bromley, W. C., Roderick, T. H., Wilson, M. C., Hejtmancik, J. F. Blue cone monochromacy: assignment of the locus to Xq28 and evidence for its molecular rearrangement. Am. J. Hum. Genet. 41: A102 only, 1987.

Wang, Y., Macke, J. P., Merbs, S. L., Zack, D. J., Klaunberg, B., Bennett, J., Gearhart, J., Nathans, J. A locus control region adjacent to the human red and green visual pigment genes. Neuron 9: 429-440, 1992.

In particular, the role of LCR that allows the exclusice expression of a unique opsin (red or green) in each cone, was discovered in the last publication.

For the study dela C203R mutation there are the following research publication:

Kazmi MA, Sakmar TP, Ostrer H. Mutation of a conserved cysteine in the X-linked cone opsins causes color vision deficiencies by disrupting protein folding and stablilty. Investigative Ophthalmology and Visual Science. 1997;38(6):10741081. [PubMed]

who understood the negative effects of this mutation on the folding of the opsin protein and:

Winderickx J, Sanocki E, Lindsey DT, Teller DY, Motulsky AG, Deeb SS. Defective colour vision associated with a missense mutation in the human green visual pigment gene. Nature Genetics. 1992;1:251256. [PubMed]

who studied this mutation and its frequency of about 2% in people of Caucasian origin.

On rare mutations of the type LIAVA you can consult:

Carroll J1, Neitz M, Hofer H, Neitz J, Williams DR., Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness. Proc Natl Acad Sci U S A. 2004 Jun.

Mizrahi-Meissonnier L., Merin S., Banin E., Sharon D., 2010.

Neitz M, Carroll J, Renner A, et al. Variety of genotypes in males diagnosed as dichromatic on a conventional clinical anomaloscope. Vis Neurosci. 2004;21:205216.

Crognale MA, Fry M, Highsmith J, et al. Characterization of a novel form of X-linked incomplete achromatopsia. Vis Neurosci. 2004; 21:197203.

Some historical research about BCM were:

Huddart, J. An account of persons who could not distinguish colours. Phil. Trans. Roy. Soc. 67: 260 only, 1777.

Sloan, L. L. Congenital achromatopsia: a report of 19 cases. J. Ophthal. Soc. Am. 44: 117-128, 1954.

Alpern, M., Falls, H. F., Lee, G. B. The enigma of typical total monochromacy. Am. J. Ophthal. 50: 996-1012, 1960. [PubMed: 13682677, related citations

Blackwell, H. R., Blackwell, O. M. Rod and cone receptor mechanisms in typical and atypical congenital achromatopsia. Vision Res. 1: 62-107, 1961.

Fleischman, J. A., ODonnell, F. E. Jr. Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus. Arch Ophthalmol 1981;99:468-472.

Lewis, R. A., Holcomb, J. D., Bromley, W. C., Wilson, M. C., Roderick, T. H., Hejtmancik, J. F. Mapping X-linked ophthalmic diseases: III. Provisional assignment of the locus for blue cone monochromacy to Xq28. Arch. Ophthal. 105: 1055-1059, 1987.

For the study of cone dystrophy, a degenerative disease caused by a point mutation on both genes OPN1LW and OPN1MW:

Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M and Hardcastle AJ,X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins.The American Journal of Human Genetics 87, 2639, July 9, 2010.

Here there are some review publications that illustrate the topic:

Neitz J., Neitz M. The genetics of normal and defective color vision. 2011 Review. Vision Research.

Deeb, S.S. Molecular Genetics of colour vision deficiencies. Clinical and Experimental Optometry 87.4 5 July 2004.

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Molecular Genetics Blue Cone Monochromacy

Molecular geneticists look at genes and ways to manipulate them for use in areas including medicine or industry. They may discover a treatment for a genetic disease. If molecular genetics sounds appealing to you, read on to learn more.

The primary focus of molecular genetics is the molecular-level study of the function and structure of genes. Molecular geneticists study the evolution and inheritance of genes. They are curious about how genes control the development and function of organisms. Molecular genetics has lead to mapping the human genome to identify disease-related genetic abnormalities, analyzing genetic changes in tumors and developing new procedures and tests. Genes are the focus, but molecular genetics also involves developmental, cellular and molecular biology.

The educational background needed to work in molecular genetics includes coursework in math, physics, chemistry and biology. Students may earn a bachelor's, master's or doctoral degree in molecular genetics. Courses may include developmental and cell biology, molecular genetics, genetic analysis, DNA transactions, human genetics and biochemistry. Dual degree programs combine molecular genetics with other sciences, such as microbiology. A Ph.D. in Molecular Genetics involves students conducting original research and writing a dissertation for faculty review. The following Study.com pages contain more information on programs, courses and degrees.

Nowadays, science courses are widely available online. View these Study.com pages for more information about online and hybrid programs for aspiring molecular geneticists.

There are many career options for students pursuing a degree in molecular genetics. The list below contains only a few examples, so be sure to visit other Study.com pages for more information.

Molecular genetics offers varied career opportunities with excellent potential for growth and salaries. The U.S. Bureau of Labor Statistics (BLS) expected job prospects for medical scientists in the decade 2012-2022 to grow by 13% (www.bls.gov). Employment for laboratory technicians was expected to grow by 30% in the same period. The BLS reported that, as of May 2012, the median annual wage for medical and clinical laboratory technicians was $37,240; biological science professors, $74,180; and medical scientists, $76,980. Payscale.com reported in March 2014 that most geneticists made a salary of between $30,000 and $132,839 annually.

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Technical Information Ashkenazi Jewish Panel (16 disorders) 2013909 Joubert Syndrome Type 2 (TMEM216), 1 Variant Additional Technical Information Ashkenazi Jewish Panel (16 disorders) 2013735 Lipoamide Dehydrogenase Deficiency (DLD), 2 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders) 2013730 Maple Syrup Urine Disease, Type 1B (BCKDHB), 3 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders) 0051448 Mucolipidosis Type IV (MCOLN1), 2 Variants Ashkenazi Jewish Panel (16 disorders) MCOLN1, Jewish Genetic, lysosomal 0051458 Niemann-Pick, Type A (SMPD1), 4 Variants Ashkenazi Jewish Panel (16 disorders) SMPD1, Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del 0051428 Tay-Sachs Disease (HEXA), 7 Variants Ashkenazi Jewish Panel (16 disorders) HEXA, Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W 2013750 Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders) 2014314 Autism and Intellectual Disability Comprehensive Panel Autism Creatine, epilepsy, amino acids, organic acids, mucopolysaccharidoses (MPS), MPS, acylcarnitine, mental retardation, Fragile X, microarray 0051614 Rett Syndrome (MECP2), Full Gene Analysis Autism RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments 2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication Autism PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism 2004935 CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication Autism CDKL5 FGA, X-linked infantile spasm 2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Autism AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments 2005564 Angelman Syndrome (UBE3A) Sequencing Autism UBE3A FGS 2010117 Beta Globin (HBB) Sequencing and Deletion/Duplication Beta Globin BG FGA, Beta thalassemia, beta globin, HBB 0050388 Beta Globin (HBB) Sequencing, Fetal Beta Globin BG SEQ FE 0051422 Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal Beta Globin HB SCE FE 0051700 Biotinidase Deficiency (BTD), 5 Mutations Biotinidase Deficiency BTD MUT, Multiple carboxylase 0051730 Biotinidase Deficiency (BTD) Sequencing Additional Technical Information Biotinidase Deficiency BTD FGS, Multiple carboxylase 0051368 Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) Blood Genotyping RHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic 0050421 RhCc Antigen (RHCE) Genotyping Blood Genotyping RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility 0050423 RhEe Antigen (RHCE) Genotyping Blood Genotyping RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility 0051644 Kell K/k Antigen (KEL) Genotyping Blood Genotyping KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano 0051433 Bloom Syndrome (BLM),1 Variant Bloom Syndrome BLM, Jewish Genetic 2012026 Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes Breast Cancer BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 2011949 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication Breast Cancer BRCA FGA, BRACA, HBOC 2011954 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing Breast Cancer BRCA FGS, BRACA, HBOC 2002722 PTEN-Related Disorders Sequencing Breast Cancer PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism 2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication Breast Cancer PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism 2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Breast Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret 2009302 Li-Fraumeni (TP53) Sequencing Breast Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret 2008398 Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication Breast Cancer STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation 2008394 Peutz-Jeghers Syndrome (STK11) Sequencing Breast Cancer STK11, STK11 FGS, hamartomatous polyps, mucocutaneous hypergigmentation 0051453 Canavan Disease (ASPA), 4 Variants Canavan Disease ASPA, Jewish Genetic 2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes Cancer, Hereditary CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel 2010183 Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes) Cardiomyopathy CARDIACPAN, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM), Arrhythmogenic right vernticular cardiomyopathy (ARVC), Left ventricular noncompaction (LVNC), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada syndrome (BrS), Long QT syndrome (LQTS), Romano-Ward, Short QT syndrome (SQTS), ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCLABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL, arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction (LVNC), long QT syndrome (LQTS), Romano-Ward, short QT syndrome (SQTS) 2004203 Carnitine Deficiency, Primary (SLC22A5) Sequencing and Deletion/Duplication Carnitine Deficiency PCD FGA, OCTN2, carnitine uptake 0051682 Carnitine Deficiency, Primary (SLC22A5) Sequencing Carnitine Deficiency PCD FGS, OCTN2, carnitine uptake 0051415 Ashkenazi Jewish Diseases, 16 Genes Carrier Screening Panels AJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15 2014674 Expanded Carrier Screen Genotyping Carrier Screening Panels ECS GENO 2014671 Expanded Carrier Screen Genotyping with Fragile X Carrier Screening Panels ECS GEN FX 2014680 Expanded Carrier Screen by Next Generation Sequencing Carrier Screening Panels ECS SEQ 2014677 Expanded Carrier Screen by Next Generation Sequencing with Fragile X Carrier Screening Panels ECS SEQ FX 2004931 CDKL5-Related Disorders (CDKL5) Sequencing Additional Technical Information CDKL5-Related Disorders CDKL5 FGS, X-linked infantile spasm 2004935 CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication CDKL5-Related Disorders CDKL5 FGA, X-linked infantile spasm 2005018 Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping Do not use in the initial evaluation for celiac disease. Useful in ruling out celiac disease (CD) (high negative predictive value) in selective clinical situations such as: Equivocal small-bowel histologic finding (Marsh I-II) in seronegative individuals Evaluation of individuals on a gluten-free diet (GFD) in whom no testing for CD was done before GFD Celiac Disease HLA CELIAC 2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication Central Nervous System Cancer VHL FGA, Brain Tumors, Pheochromocytoma 2002970 Von Hippel-Lindau (VHL) Sequencing Central Nervous System Cancer VHL FGS, Congenital polycythemia 2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes Central Nervous System Cancer CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel 2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Central Nervous System Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret 2009302 Li-Fraumeni (TP53) Sequencing Central Nervous System Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret 2012160 Charcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication Charcot-Marie-Tooth Disease CMT DD, AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2,DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HK1, HOXD10,HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2,MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A,SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, WNK1, YARS 2012155 Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Charcot-Marie-Tooth Disease CMT REFLEX,AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2,DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HK1, HOXD10,HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2,MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A,SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, WNK1, YARS 2012151 Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing Charcot-Marie-Tooth Disease CMT SEQ, AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2,DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HK1, HOXD10,HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2,MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A,SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, WNK1, YARS 2012609 CHARGE Syndrome, CHD7 Sequencing CHARGE Syndrome 2012717 CHARGE Syndrome (CHD7) Sequencing, Fetal CHARGE Syndrome 2002065 Chimerism, Recipient Pre-Transplant Chimerism STR-PRE 2002067 Chimerism, Donor Chimerism STR-DONOR 2002064 Chimerism, Post-Transplant, Sorted Cells Chimerism STR-POSTSC 2002066 Chimerism, Post-Transplant Chimerism STR-POST 2006356 Chronic Granulomatous Disease (CYBB Gene Scanning and NCF1 Exon 2 GT Deletion) with Reflex to CYBB Sequencing Chronic Granulomatous Disease CGD PANEL, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II 2006361 Chronic Granulomatous Disease, X-linked (CYBB) Gene Scanning with Reflex to Sequencing Chronic Granulomatous Disease CYBB, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II 2006366 Chronic Granulomatous Disease (NCF1) Exon 2 GT Deletion Chronic Granulomatous Disease NCF1, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II 2006261 Citrin Deficiency (SLC25A13) Sequencing Citrin Deficiency CITRIN FGSCitrin DeficiencyCitrullinemia Type II Failure to Thrive and Dyslipidemia Caused by Citrin Deficiency Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency 2007069 Citrullinemia, Type I (ASS1) Sequencing Citrullinemia, Type I 2011157 Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes) Cobalamin/Propionate/Homocysteine Metabolism Related Disorders VB12 PANEL, "ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, HCFC1, LMBRD1, MAT1A, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2Methylmalonic aciduria and homocystinuria, cblJ typeCombined malonic and methylmalonic aciduriaMegaloblastic anemia-1, Norwegian typeHomocystinuria due to cystathionine beta-synthase deficiencyMethylmalonic aciduria due to transcobalamin receptor defectMegaloblastic anemia-1, Finnish typeIntrinsic factor deficiencyMethylmalonic acidemia and homocysteinemia, cblX type Methylmalonic aciduria and homocystinuria, cblF typeMethionine adenosyltransferase deficiencyMethylmalonyl-CoA epimerase deficiencyMethylmalonic aciduria, cblA typeMethylmalonic aciduria, cblB typeMethylmalonic aciduria and homocystinuria, cblC typeMethylmalonic aciduria and homocystinuria, cblD typeHomocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activityHomocystinuria-megaloblastic anemia, cblG typeHomocystinuria-megaloblastic anemia, cbl E typeMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiencyPropionic acidemiaMitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)Transcobalamin I deficiencyTranscobalamin II deficiency 2013386 Congenital Adrenal Hyperplasia (CAH) (21-Hydroxylase Deficiency) Common Mutations Congenital Adrenal Hyperplasia (CAH) 2006220 Congenital Amegakaryocytic Thrombocytopenia (CAMT) Sequencing Congenital Amegakaryocytic Thrombocytopenia CAMT FGS, GeneDx 2008610 Creatine Transporter Deficiency (SLC6A8) Sequencing and Deletion/Duplication Creatine SLC6A8 FGA, SLC6A8-Related Creatine Transporter Deficiency, SLC6A8 Deficiency 2008615 Creatine Transporter Deficiency (SLC6A8) Sequencing Additional Technical Information Creatine SLC6A8 FGS, SLC6A8-Related Creatine Transporter Deficiency, SLC6A8 Deficiency 0051110 Cystic Fibrosis (CFTR) Sequencing Cystic Fibrosis CF-CFTR, Diagnostic, CF 0051640 Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication Cystic Fibrosis CFTR FGA, Diagnostic, CF 2013661 Cystic Fibrosis (CFTR), 165 Pathogenic Variants Cystic Fibrosis CF VAR 2013662 Cystic Fibrosis (CFTR), 165 Pathogenic Variants, Fetal Cystic Fibrosis CF VAR FE 2013663 Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing Cystic Fibrosis CF VAR SEQ 2013664 Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing and Reflex to Deletion/Duplication Cystic Fibrosis CFVAR COMP 2014547 Cytochrome P450 2D6 (CYP2D6) 15 Variants and Gene Duplication Cytochrome P450 CYP 2D6, Tamoxifen, Pharmacogenetics (PGx), Schizophrenia, Breast Cancer, breast biomarkers 2012769 Cytochrome P450 2C19, CYP2C19 - 9 Variants Cytochrome P450 CYP2C19, Pharmacogenetics (PGx), Schizophrenia, Breast Cancer, breast biomarkers 2012766 Cytochrome P450 2C9, CYP2C9 - 2 Variants Additional Technical Information Cytochrome P450 CYP2C9, Warfarin Sensitivity, Pharmacogenetics (PGx) 2012740 Cytochrome P450 3A5 Genotyping, CYP3A5, 2 Variants Cytochrome P450 2013098 Cytochrome P450 Genotype Panel Cytochrome P450 CYP PAN 2006234 Diamond-Blackfan Anemia (RPL5) Sequencing Diamond-Blackfan Anemia RPL5 FGS, GeneDx 2006236 Diamond-Blackfan Anemia (RPL11) Sequencing Diamond-Blackfan Anemia RPL11 FGS 2006238 Diamond-Blackfan Anemia (RPS19) Sequencing Diamond-Blackfan Anemia RPS19 FGS 2011241 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing Duchenne/Becker Muscular Dystrophy DMD REFLEX, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 2011235 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication Duchenne/Becker Muscular Dystrophy DMD DD, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 2011153 Duchenne/Becker Muscular Dystrophy (DMD) Sequencing Duchenne/Becker Muscular Dystrophy DMD SEQ, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 2011231 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal Duchenne/Becker Muscular Dystrophy DMD DD FE, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 2006244 Dyskeratosis Congenita, Autosomal (TERC) Sequencing Dyskeratosis Congenita TERC FGS, GeneDx 2006228 Dyskeratosis Congenita, X-linked (DKC1) Sequencing Dyskeratosis Congenita DKC1 FGS 2011241 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing Dystrophinopathies DMD REFLEX, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 2011235 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication Dystrophinopathies DMD DD, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 2011153 Duchenne/Becker Muscular Dystrophy (DMD) Sequencing Dystrophinopathies DMD SEQ, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 2011231 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal Dystrophinopathies DMD DD FE, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 0080351 Ehlers-Danlos Syndrome Type VI Screen, Urine Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS6Ehlers-Danlos Syndrome, Kyphoscoliotic FormEDS Kyphoscoliotic FormEDS Type VIEDS VIEhlers-Danlos Syndrome Type VILysyl-Hydroxylase DeficiencyEhlers-Danlos Syndrome Type VIANevo SyndromePLOD1Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1EDSVIEDS6EDS 6 2005559 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS-VI FGA 2005360 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication Endocrine Cancer MEN1 FGA, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN) 2005359 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing Endocrine Cancer MEN1 FGS, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN) 0051390 Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing Endocrine Cancer MEN2 SEQ, Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene 2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication Endocrine Cancer VHL FGA, Brain Tumors, Pheochromocytoma 2002970 Von Hippel-Lindau (VHL) Sequencing Endocrine Cancer VHL FGS, Congenital polycythemia 2007167 Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel Endocrine Cancer 2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes Endocrine Cancer CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel 2006948 SDHB with Interpretation by Immunohistochemistry Endocrine Cancer 2007108 Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication Additional Technical Information Endocrine Cancer 2007117 Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication Additional Technical Information Endocrine Cancer 2002722 PTEN-Related Disorders Sequencing Endocrine Cancer PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism 2007122 Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication Additional Technical Information Endocrine Cancer 2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication Endocrine Cancer PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism 2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Endocrine Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret 2009302 Li-Fraumeni (TP53) Sequencing Endocrine Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret 2007533 Progressive Myoclonic Epilepsy (PME) Panel, Sequence Analysis and Exon-Level Deletion/Duplication Additional Technical Information Epilepsy PROG EPIL, seizures, PME, myoclonus, Lafora, Unverricht-Lundborg, neuronal ceroid lipofuscinoses, NCL, PRICKLE1, EPM2A, EPM2B, NHLRC1, CSTB, PPT1, CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10, TPP1, MFSD8, CTSD, GeneDx 2006069 Febrile Seizures Panel Epilepsy FEBRIL PAN 2007545 Childhood-Onset Epilepsy Panel, Sequencing and Deletion/Duplication Additional Technical Information Epilepsy CHILD EPIL, Early-onset epileptic encephalopathy, SCN1A, Sodium channel protein type 1 alpha, PCDH19, Protocadherin-19, SLC2A1, Solute carrier family 2, facilitated glucose transporter member 1, POLG, DNA polymerase subunit gamma-1, SCN2A, Sodium channel protein type 2 alpha, Generalized epilepsy with febrile seizures plus, GEFS+, SCN1A, Sodium channel protein type 1 alpha, SCN1B, Sodium channel subunit beta-1, GABRG2, Gamma-aminobutyric acid receptor subunit gamma-2, SCN2A, Sodium channel protein type 2 alpha, Juvenile Myoclonic Epilepsy, JME, EFHC1, EF-hand domain-containing protein 1, CACNB4, Voltage-dependent L-type calcium channel subunit beta-4, GABRA1, Gamma-aminobutyric acid receptor subunit alpha-1, Progressive Myoclonic Epilepsy, EPM2A, Laforin, NHLRC1, EPM2B, NHL repeat-containing protein 1, malin, CSTB, Cystatin-B, PRICKLE1, Prickle-like protein 1, Autosomal Dominant Focal Epilepsies, CHRNA4, Neuronal acetylcholine receptor alpha-4, CHRNB2, Neuronal acetylcholine receptor beta-2, CHRNA2, Neuronal acetylcholine receptor alpha-2, LGI1, Leucine-rich glioma-inactivated protein 1, atypical Rett syndromes, MECP2, Methyl CpG binding protein 2, CDKL5, Cyclin-dependent kinase-like 5, FOXG1, Forkhead box protein G1, Angelman, Angelman-like, Pitt-Hopkins, UBE3A, Ubiquitin protein ligase E3A, SLC9A6, Sodium/hydrogen exchanger 6, TCF4, Transcription factor 4, NRXN1, Neurexin-1, CNTNAP2, Contactin-associated protein-like 2, Mowat-Wilson, ZEB2, Zinc finger E-box-binding, homeobox 2, Creatine deficiency, GAMT, Guanidinoacetate N-methyltransferase, GATM, Glycine amidinotransferase, mitochondrial, Neuronal Ceroid Lipofuscinoses, NCL, PPT1, CLN1, Palmitoyl-protein thioesterase 1, TPP1, CLN2,Tripeptidyl-peptidase 1, CLN3, Battenin, CLN5, Ceroid-lipofuscinosis neuronal protein 5, CLN6, Ceroid-lipofuscinosis neuronal protein 6, MFSD8, CLN7, Major facilitator superfamily domain-containing protein 8, CLN8, Ceroid-lipofuscinosis neuronal protein 8, CTSD, CLN10, Cathepsin D, Adenosuccinate lyase deficiency, ADSL, Adenylosuccinate lyase, SYN1, Synapsin-1, Microcephaly with early-onset intractable seizures and developmental delay, MCSZ, PNK, Bifunctional polynucleotide, phosphatase/kinase, seizures, GeneDx 2007535 Infantile-Onset Epilepsy Panel, Sequencing and Deletion/Duplication Additional Technical Information Epilepsy INFANT EPIL; SCN1A; PCDH19; SLC2A1; POLG; SCN2A; SCN1A; SCN1B; GABRG2; EFHC1; CACNB4; GABRA1; EPM2A; NHLRC1; EPM2B; CSTB; PRICKLE1; CHRNA4; CHRNB2; CHRNA2; LGI1; MECP2; CDKL5; FOXG1; UBE3A; SLC9A6; TCF4; NRXN1; CNTNAP2; ZEB2; GAMT; GATM; PPT1; CLN1; TPP1; CLN2; CLN3; CLN5; CLN6; MFSD8; CLN7; CLN8; CTSD; CLN10; ADSL; SYN1; PNKP; benign familial neonatal seizures; generalized epilepsy with febrile seizures; juvenile myoclonic epilepsy; progressive myoclonic epilepsy; autosomal dominant focal epilepsies; Rett/atypical Rett syndromes; Angelman/Angelman-like/Pitt-Hopkins syndromes; Mowat-Wilson syndrome; creatine deficiency syndromes; neuronal ceroid lipofuscinoses; adenosuccinate lyase deficiency; epilepsy with variable learning and behavioral disorders; microcephaly with early onset intractable seizures and developmental delay", GeneDx 2006332 Exome Sequencing with Symptom-Guided Analysis Exome EXOME SEQ 2006336 Exome Sequencing Symptom-Guided Analysis, Patient Only Exome EXOSEQ PRO 0030192 APC Resistance Profile with Reflex to Factor V Leiden Factor V Leiden APC R, Venous thrombosis, Thromboembolism, Thrombophilia, clotting 0097720 Factor V Leiden (F5) R506Q Mutation Factor V Leiden FACV, Venous thrombosis, Thromboembolism, Thrombophilia, clotting 2001549 Factor V, R2 Mutation Factor V Leiden F5 R2, Venous thrombosis, Thromboembolism, Thrombophilia, clotting, A4070G 2003220 Factor XIII (F13A1) V34L Variant (assess thrombotic risk in Caucasians) Factor XIII (F13A1) V34L Variant FAC 13 MUT, Venous thrombosis, Thromboembolism, Thrombophilia, clotting 2004915 Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations Familial Adenomatous Polyposis FAP Panel, Familial Adenomatious Polyposis familial cancer, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer 2004863 Familial Adenomatous Polyposis (APC) Sequencing Familial Adenomatous Polyposis APC FGS, Colorectal Cancer, colon cancer, CRC, polyps, Familial Adenomatious Polyposis FAP, familial cancer 2004911 MUTYH-Associated Polyposis (MUTYH) 2 Mutations Familial Adenomatous Polyposis MYH SEQ, Hereditary Colorectal Cancer, MAP, MUTH Associated Polyposis 2006191 MUTYH-Associated Polyposis (MUTYH) Sequencing Familial Adenomatous Polyposis MUTYH, FGS, MYH 2006307 MUTYH-Associated Polyposis (MUTYH) 2 Mutations with Reflex to Sequencing Familial Adenomatous Polyposis MUTYH RFLX MYH 0051463 Dysautonomia, Familial (IKBKAP), 2 Variants Familial Dysautonomia IKBKAP, Jewish Genetic Disease 2002658 Familial Mediterranean Fever (MEFV) Sequencing Familial Mediterranean Fever (MEFV) FMF FGS, DNA 2001961 Familial Mutation, Targeted Sequencing

The following genes are available:ACADVL, ACADM, ACVRL1, APC, ASS1, ATP7A, BMPR1A, BMPR2, BTD, CCM1, CCM2, CCM3, CDKL5, CFTR, COL4A5, CYP1B1, ENG, F8, F9, FBN1, G6PD, GALT, GJB2; HBA1, HBA2, HBB, INSR, LMNA, MECP2,MEFV, MEN1, MLH1, MSH2; MSH6, MUTYH, MYH3, NF1, OTC, PLOD1, PMS2; PRSS1, PTEN, PTPN11, RASA1, RET, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SMAD4, SPRED1, SPINK1, SOS1, STK11, TACI, TGFBR1, TGFBR2, UBE3A, VHL, VWF

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Molecular Genetics | ARUP Laboratories

The Department of Microbiology, Immunology & Molecular Genetics is part of theLong School of Medicineat theUniversity of Texas Health Science Center at San Antonio. Our faculty conducts research on the immune system, infectious agents and cancer. Accordingly, the department is the nucleus for research and education in immunological and microbiological topics for the five schools at theUniversity of Texas Health Science Center at San Antonio, and provides a dynamic environment for scientific discovery and training.

Our mission is to further research in molecular immunology, microbial pathogenesis, tumor immunology,autoimmunity, immunodeficienciesand development of the immune system, in order to build the knowledge necessary for vaccines and therapies of the future. We use molecular genetics and epigenetics approaches in conjunction with next-generation sequencing tools to dissect mechanisms for generations of antibodies and lymphocytes that protect against viruses, bacteria, fungi, as well as tumor cells. We also strive to understand molecular mechanisms of tumorigenesis, with particular emphasis on B lymphocyte neoplastic transformation in the context of the developing immune system. To this end, basic and translational research are of equal importance, to foster discovery of biological truths and translate those discoveries into new therapeutics.

We are committed to developing the next generation of scientists in biomedical research with an emphasis on molecular immunology, and to this end, we offer a spectrum of training opportunities. We house anUndergraduate Research Program,in addition to aMaster of Science Program in Immunology and Infection. Our faculty also teach and mentor PhD students through theInfection, Inflammation and Immunity Discipline of the Integrated Biomedical Science Program in the Graduate School of Biomedical Sciences, in addition to providing the teaching in immunology and infection to our medical students. Finally, in addition to undergraduate and graduate trainees,Postdoctoral Fellowsare important in our overall research effort. Postdoctoral fellowships are available in most laboratories of the Department of Microbiology, Immunology & Molecular Genetics.

The Department of Microbiology, Immunology & Molecular Genetics supports a variety of learning and training opportunities in seminars, lectures and events, including:

Contact the Program Coordinators at: immunity@uthscsa.edu

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Microbiology, Immunology & Molecular Genetics - Microbiology

The members of the Department of Microbiology, Biochemistry and Molecular Genetics at New Jersey Medical School of Rutgers Biomedical and Health Sciences (RBHS) are investigating some of the most intriguing problems facing modern biology, including regulation of gene expression, processing of mRNA, functional genomics, chromosome replication and recombination, regulation of cell growth and tumorigenesis, signal transduction and mechanisms governing bacterial and viral pathogenesis. Many different experimental systems are utilized including bacteria, viruses, yeast, animal cells and protozoa. The department is fully equipped for modern molecular studies and has core facilities available through the medical school for nucleic acid and protein sequencing, cell imaging, mass spectroscopy, FACS and advanced data processing. In 2002, the department occupied the newly constructed International Center for Public Health, which it shares with the renowned Public Health Research Institute Center of NJMS (formerly of New York City) and the NJMS - Global Tuberculosis Institute. The center creates a unique and exciting environment for scientific research.

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Research - Rutgers New Jersey Medical School

UCLA has received an $8.4 million grant from the National Institutes of Health to research ways to help donated livers last longer and improve outcomes for transplant recipients.

The five-year grant is the fourth in a series from the NIH to the DumontUCLA Transplant Center to develop medications to prevent the body from rejecting a transplanted liver and help patients live longer, healthier lives. The grants have totaled more than$13million.

The initiative is headed by Dr. Jerzy Kupiec-Weglinski, the Paul I. Terasaki Chair in Surgery and vice chair of research at the Department of Surgery at the David Geffen School of Medicine at UCLA. The project brings together the expertise and experience of researchers from the UCLA departments of surgery, pathology and laboratory medicine, and microbiology, immunology and molecular genetics.

UCLA Health

Dr. Jerzy Kupiec-Weglinski

There are less than 10 program project grants in the country funded by the NIH that are related to organ transplantation, so this is a big deal, Kupiec-Weglinski said. Through this project, we believe we will develop novel therapeutic strategies that can be directly applied in transplant patients.

Around 6,000 liver transplant surgeries are performed every year in the U.S., and UCLAs liver transplant program was the nations fourth busiest last year, according to the United Network for Organ Sharing. UCLA doctors performed 161 liver transplants in 2016. The UCLA division of liver and pancreas transplantation is headed by Dr. Ronald Busuttil and is a part of the department of surgery.

About 90 percent of people who undergo liver transplants at UCLA survive at least one year after their surgeries, which is the mark of success for the procedure.

However, the long-term outcomes are not so great for many recipients, regardless of where they receive their transplant, Kupiec-Weglinski said. Graft rejection and a lack of donor organs continue to be major problems for organ recipients.

On average, transplanted livers remain viable for 15 years, so recipients who live that long after their transplant must eventually return to the waiting list for a new organ. Organ recipients also have a higher risk of opportunistic infections because they must remain on immune-suppressing medications for life in order to prevent organ rejection.

This project addresses two of the major problems in transplantation worldwide: the decreasing quality of donor organs and a widening disparity between the increasing numbers of potential transplant recipients and inadequate donor organ supply, Kupiec-Weglinski said.

Learn more about the immunity, inflammation, infection and transplantation research theme, or I3T, at UCLA.

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UCLA receives $8.4 million NIH grant to help liver transplant recipients stay healthier longer - UCLA Newsroom

What happened

Shares of Myriad Genetics (NASDAQ:MYGN), a leading developer of molecular diagnostic tests, surged by 26% during the month of August, according to data from S&P Global Market Intelligence. Why the sudden surge? The bulk of the gains look traceable to the company's fourth-quarter and full-year earnings release on Aug. 8, as well as positive insurance coverage decisions made on a key diagnostic product mid-month.

The rally really began for Myriad Genetics following the release of its fourth-quarter report. During Q4, Myriad wound up generating $200.5 million in sales, an 8% year-over-year improvement, largely helped by growth in its GeneSight test.Despite the jump in sales, its adjusted profit fell by 17% to $0.30 per share. Nevertheless, Myriad wound up topping Wall Street's sales and profit projections for the fourth quarter. This beat, coupled with growth from newer diagnostic products, which have helped offset competitive weaknesses in its hereditary cancer testing franchise (e.g., BRCA gene tests), clearly have investors upbeat about Myriad's prospects.

Image source: Getty Images.

The other catalyst driving big gains in August was favorable insurer coverage decisions for EndoPredict, a next-generation prognostic test that helps physicians determine a best course of care for patients with breast cancer. Myriad wound up announcing that Palmetto GBA, the Medicare contractor that oversees the MoIDx (Molecular Diagnostics) program, and Anthem, the second-largest insurer nationally, have decided to cover EndoPredict.Following the implementation of these decisions, Myriad will be able to cover more than 90% of breast cancer patients, which is pretty impressive considering EndoPredict was launched less than six months ago.

In a world of personalized medicine, Myriad Genetics continues to lead the charge. Unfortunately, this is also an increasingly crowded space that tends to rely on healthy reimbursements from Medicare and Medicaid. With the Trump administration looking to cut long-term payouts to both programs, it leaves Myriad's future somewhat cloudy.

By a similar token, the company has also seen price erosion from competition in its hereditary cancer segment, from which it derives about three-quarters of its sales. However, growth from new products, compounded with volume growth in hereditary cancer testing, even at a lower margin, could still fuel substantial sales and profit improvements in the coming years.

So, what's an investor to do? I'd suggest that modest optimism seems fair at these levels. It's probably going to take a few more years before sales in Myriad's core operating segment level off, but at the same time it should be able to continue to grow its newly launched diagnostic products. Once the company has a more balanced revenue stream, it should be able to throttle back a bit on its operating expenses and allow its operating margin to soar. Patient investors with at least a five-year time horizon should do just fine.

Sean Williams has no position in any of the stocks mentioned. The Motley Fool has no position in any of the stocks mentioned. The Motley Fool has a disclosure policy.

Excerpt from:
The 2 Major Catalysts Behind Myriad Genetics, Inc.'s 26% Gain in August - Motley Fool

BioTelemetry (NASDAQ: BEAT) and Signal Genetics (NASDAQ:MGEN) are both small-cap medical companies, but which is the better investment? We will contrast the two companies based on the strength of their dividends, institutional ownership, earnings, analyst recommendations, valuation, profitability and risk.

Institutional and Insider Ownership

78.0% of BioTelemetry shares are held by institutional investors. Comparatively, 20.7% of Signal Genetics shares are held by institutional investors. 9.6% of BioTelemetry shares are held by insiders. Comparatively, 44.4% of Signal Genetics shares are held by insiders. Strong institutional ownership is an indication that large money managers, hedge funds and endowments believe a company is poised for long-term growth.

Risk & Volatility

BioTelemetry has a beta of 0.73, indicating that its share price is 27% less volatile than the S&P 500. Comparatively, Signal Genetics has a beta of 1.96, indicating that its share price is 96% more volatile than the S&P 500.

Analyst Ratings

This is a summary of recent ratings and target prices for BioTelemetry and Signal Genetics, as provided by MarketBeat.com.

BioTelemetry currently has a consensus price target of $45.75, indicating a potential upside of 21.19%. Signal Genetics has a consensus price target of $23.00, indicating a potential upside of 156.70%. Given Signal Genetics higher possible upside, analysts clearly believe Signal Genetics is more favorable than BioTelemetry.

Valuation and Earnings

This table compares BioTelemetry and Signal Genetics revenue, earnings per share (EPS) and valuation.

BioTelemetry has higher revenue and earnings than Signal Genetics.

Profitability

This table compares BioTelemetry and Signal Genetics net margins, return on equity and return on assets.

Summary

BioTelemetry beats Signal Genetics on 7 of the 11 factors compared between the two stocks.

BioTelemetry Company Profile

BioTelemetry, Inc. (BioTelemetry), formerly CardioNet, Inc., provides cardiac monitoring services, cardiac monitoring device manufacturing, and centralized cardiac core laboratory services. The Company operates in three segments: patient services, product and research services. The patient services business segments principal focus is on the diagnosis and monitoring of cardiac arrhythmias or heart rhythm disorders, through its core Mobile Cardiac Outpatient Telemetry(MCOT), event and Holter services in a healthcare setting. The product business segment focuses on the development, manufacturing, testing and marketing of medical devices to medical companies, clinics and hospitals. The Companys research services focuses on providing cardiac safety monitoring services for drug and medical treatment trials in a research environment. In August 2012, the Company completed the acquisition of Cardiocore Lab, Inc. (Cardiocore).

Signal Genetics Company Profile

Signal Genetics, Inc. is a commercial stage, molecular genetic diagnostic company. The Company is focused on providing diagnostic services that help physicians to make decisions concerning the care of cancer patients. The Companys diagnostic service is the Myeloma Prognostic Risk Signature (MyPRS) test. The MyPRS test is a microarray-based gene expression profile (GEP), assay that measures the expression level of specific genes and groups of genes that are designed to predict an individuals long-term clinical outcome/prognosis, giving a basis for personalized treatment options. The Companys MyPRS test provides a whole-genomic expression profile of a patients multiple myeloma (MM). The Company offers MyPRS test in its laboratory located in Little Rock, Arkansas. The Company is licensed to sell its test in all 50 states.

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Analyzing BioTelemetry (BEAT) and Signal Genetics (MGEN) - The Ledger Gazette

Light, fat, and commensals

The gut microbiota facilitates energy harvest from food and transfers it into fat storage. Working in mice, Wang et al. found that an epithelial cell circadian transcription factor, NFIL3, is involved in regulating body composition through lipid uptake. Flagellin and lipopolysaccharide produced by certain microbes tuned the amplitude of oscillation of NFIL3 through innate lymphoid cell (ILC3) signaling, STAT3, and the epithelial cell clock. Such interactions may help to explain why circadian clock disruptions in humans, arising from shift work or international travel, frequently track with metabolic diseases, including obesity, diabetes, and cardiovascular disease.

Science, this issue p. 912

The intestinal microbiota has been identified as an environmental factor that markedly affects energy storage and body-fat accumulation in mammals, yet the underlying mechanisms remain unclear. Here we show that the microbiota regulates body composition through the circadian transcription factor NFIL3. Nfil3 transcription oscillates diurnally in intestinal epithelial cells, and the amplitude of the circadian oscillation is controlled by the microbiota through group 3 innate lymphoid cells, STAT3 (signal transducer and activator of transcription 3), and the epithelial cell circadian clock. NFIL3 controls expression of a circadian lipid metabolic program and regulates lipid absorption and export in intestinal epithelial cells. These findings provide mechanistic insight into how the intestinal microbiota regulates body composition and establish NFIL3 as an essential molecular link among the microbiota, the circadian clock, and host metabolism.

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The intestinal microbiota regulates body composition through NFIL3 and the circadian clock - Science Magazine

Myriad Genetics (NASDAQ: MYGN) and Varex Imaging (NASDAQ:VREX) are both medical companies, but which is the better investment? We will compare the two businesses based on the strength of their dividends, valuation, institutional ownership, earnings, analyst recommendations, risk and profitability.

Valuation & Earnings

This table compares Myriad Genetics and Varex Imagings revenue, earnings per share (EPS) and valuation.

Varex Imaging has higher revenue, but lower earnings than Myriad Genetics.

Analyst Ratings

This is a breakdown of recent ratings and target prices for Myriad Genetics and Varex Imaging, as provided by MarketBeat.com.

Myriad Genetics presently has a consensus target price of $20.38, suggesting a potential downside of 32.64%. Varex Imaging has a consensus target price of $33.50, suggesting a potential upside of 7.48%. Given Varex Imagings stronger consensus rating and higher probable upside, analysts plainly believe Varex Imaging is more favorable than Myriad Genetics.

Institutional & Insider Ownership

91.8% of Varex Imaging shares are owned by institutional investors. 6.2% of Myriad Genetics shares are owned by insiders. Strong institutional ownership is an indication that endowments, large money managers and hedge funds believe a stock will outperform the market over the long term.

Profitability

This table compares Myriad Genetics and Varex Imagings net margins, return on equity and return on assets.

Summary

Myriad Genetics beats Varex Imaging on 6 of the 10 factors compared between the two stocks.

Myriad Genetics Company Profile

Myriad Genetics, Inc. is a molecular diagnostic company. The Company is engaged in the discovery, development and marketing of transformative molecular diagnostic tests. The Company operates through two segments: diagnostics and other. The diagnostics segment provides testing and collaborative development of testing that is designed to assess an individuals risk for developing disease later in life, identify a patients likelihood of responding to drug therapy and guide a patients dosing to enable optimal treatment, or assess a patients risk of disease progression and disease recurrence. The other segment provides testing products and services to the pharmaceutical, biotechnology and medical research industries, research and development, and clinical services for patients, and also includes corporate services, such as finance, human resources, legal and information technology. Its molecular diagnostic tests include myRisk Hereditary Cancer, BRACAnalysis CDx and COLARIS.

Varex Imaging Company Profile

Varex Imaging Corporation is a supplier of medical X-ray tubes and image processing solutions. The Companys segments include Medical and Industrial. The X-ray imaging system manufacturers use the Companys components for medical imaging, cargo screening and border security, to detect, diagnose and protect. The Medical business segment designs, manufactures, sells and services X-ray imaging components for use in a range of applications, including radiographic or fluoroscopic imaging, mammography, special procedures, computed tomography, radiation therapy and computer-aided detection. The Industrial business segment designs, manufactures, sells and services products for use in security and industrial inspection applications, such as cargo screening at ports and borders and non-destructive examination in a range of applications.

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Myriad Genetics (MYGN) and Varex Imaging (VREX) Financial Survey - The Ledger Gazette

A recent Duke University study sheds new light on intestinal health and disease.

The study, called Genomic Dissection of Conserved Transcriptional Regulation in Intestinal Epithelial Cells, published Tuesday in PLOS Biology journal.

Scientists identified an ancient network of genes shared between humans and other vertebrates that make up the intestine.

These results indicate that the intestines of humans and fishes share more in common than once presumed, making it possible to look into the guts of fish and other related animals to learn about the origins of human intestinal conditions, said Dr. John Rawls, the senior author of the study.

Some of the shared genes have previously been linked to diabetes, inflammatory bowel diseases and obesity. Rawls, associate professor of molecular genetics and microbiology at Dukes School of Medicine, said the researchers believe they discovered what may turn those genes on and off.

Our research has uncovered aspects of intestinal biology that have been well-conserved during vertebrate evolution, suggesting they are of central importance to intestinal health, Rawls said in a news release from Duke. By doing so, we have built a foundation for mechanistic studies of intestinal biology in non-human model systems like fish and mice that would be impossible to perform in humans alone.

The use of animals in human intestinal research is nothing new. But genome-wide data generated from zebrafish, stickleback fish, mice and humans identified the extent the genes were shared among the species.

Dr. Colin Lickwar, a co-author of the study, mapped out each species activity level for all of the genes and the location of specific genetic sequences or regulatory elements that flipped those genes on and off, the university reported.

The project was supported by Duke University and the National Institutes of Health.

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Human, fish intestine gene study may show what turns illnesses on ... - News & Observer

A new Duke study suggests that typhoid fever invades human cells with the help of cholesterol.

After analyzing the genomes of cells that were particularly susceptible to typhoid infection, the team centered their research around the protein VAC14. They ultimately found that cells producing less VAC14 had more cholesterol in their cell membranes and were also more likely to become infected by invading bacteria.

This genetic difference affects the level of VAC14 in your cell, said Dennis Ko, assistant professor of molecular genetics and microbiology and senior author of the paper. VAC14 is involved in lipid signaling, but we didnt know how that connected to salmonella [bacteria] invasion.

He explained that the first part of the experiment was dedicated to pinpointing which genes were associated with an increase in infection of Salmonella typhi, the bacteria that causes typhoid fever.

By exposing cells taken from hundreds of volunteers to the bacteria, the group determined which genes may make cells more conducive to bacterial invasion. Ko compared this work to a needle-in-the-haystack scenario, since there are many possible genes that could play a role in the infection process.

After isolating VAC14 as a significant gene for Salmonella infection, Monica Alvarez, a graduate student and lead author of the study, identified that cells producing less VAC14 had more bacteria attached to their membranes.

In other words, the team's findings showed that VAC14 was affecting the first step of bacterial invasion, as salmonella must first attach to the cell membrane and use a molecular needle to inject the viral molecules into the cell, Ko explained.

That was important, because it told us that the initial binding was the step involved, he said. Thats when we remembered that salmonella had been previously shown to bind directly to cholesterol as part of this initial attachment process.

To further test this theory, the researchers turned to Sarah Dunstan, who studies typhoid fever susceptibility in Vietnam. Compiling the DNA information for about 1,000 Vietnamese patients, Ko and the team again found that the VAC14 gene was tied to the risk of Salmonella infection.

After confirming VAC14's importance, the team next looked at how this process played out in a zebrafish model. They centered their tests around the hypothesis that decreasing the levels of cholesterol would lead to less Salmonella invasion.

Zebrafish are a phenomenal animal model system because they are optically transparent making them ideal for imaging studies, Alvarez wrote in an email.

The zebrafish were first treated with ezetimibea drug that lowers cholesterol levelsand then exposed to the typhoid fever bacteria. Alvarez found that the fish treated with the cholesterol-lowering drug had improved survival rates and also cleared the bacteria from their system with more efficiency.

Both Ko and Alvarez noted that their success in zebrafish may not be entirely predictive for humans but were optimistic about the initial results. They said they hoped to move to a different animal to show that the treatment may be more broadly useful.

The reason we still have to be cautious is because its a zebrafishnot a person, not a mouse, its a zebrafish, Ko said. And we were delivering the bacteria through an injection, so people usually get salmonella infection because they eat something thats taintedso the route of delivery isnt quite the same.

He explained that the exact mechanism behind VAC14s ability to affect the amount of cholesterol in the cell is still unknown. There is also a potential to apply these findings to other diseases and examine whether other pathogens are similarly affected by cholesterol.

The ultimate goal in terms of a utility standpoint would be to be able to say, yeah, we started these initial observations based on cell biology, and we were able to take it to animal models and then eventually, we wanted to see whether or not they had any usefulness in people, Ko said.

Originally posted here:
Cholesterol is linked to increased risk of typhoid fever, Duke study shows - Duke Chronicle

Dr Walid Qoronfleh, director of research and policy at the World Innovation Summit for Health (WISH), has co-authored a chapter of a book that takes an in-depth look at cancers of the mouth, known as human oral cancer.The book, Development of Oral Cancer: Risk Factors and Prevention Strategies, identifies different aspects of human oral cancer as a step toward the alleviation and prevention of the disease.Oral cancer is one of the most common non-communicable diseases worldwide with an estimated 300,000 new cases and 145,000 deaths in 2012.Dr Qoronflehs contribution, a chapter entitled Novel Developments in the Molecular Genetic Basis of Oral Squamous Cell Carcinoma, is co-authored with Dr Nader al-Dewik from the Qatar Medical Genetics Centre, part of Hamad Medical Corporation.The chapter examines the most common molecular genetic alterations of cancer cells and the role of these cells in the development of oral cancer, with a view to help develop targeted therapeutic approaches to the disease.Oral health and tobacco cessation are key health areas for the Ministry of Public Health, as per the Qatar Public Health Strategy 2017-2022.Dr Qoronfleh said: Early stage detection not only improves prognosis but also increases the survival rate and enhances a patients quality of life. Advances in the understanding of the molecular basis of oral cancer should help in the identification of new biomarkers and open new horizons for therapy, especially targeted therapy, which is likely to be more successful in the long run.Another way to combat oral cancer is education. Public awareness programmes are necessary tools to fight oral cancer at all levels in terms of diagnosis, risk management, and treatment monitoring.The greatest challenge related to oral cancer is that the disease is often not detected early enough for successful treatment. The World Health Organisation has reported that oral cancer malignancies and mortality are increasing, with an alarming rise in incidence among young people in the Arab world due to various tobacco habits.Development of Oral Cancer: Risk Factors and Prevention Strategies is published by Springer International Publishing and is edited by Ala-Eddin al-Moustafa, a professor at the College of Medicine at Qatar University and adjunct professor of the oncology department of McGill University, Canada.

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WISH researcher contributes to book on oral cancer - Gulf Times

DUHOK, Kurdistan Region It took approximately five months and 75 volunteers of all ages to finalize everything needed to host the first ever TEDx event in Duhok, a mountainous city and a tourist spot located in the northern part of the Kurdistan Region.

For the organizers, it is about giving motivated speakers an opportunity to share their life journey, like Wahid Chicho who was born a dwarf and is married with two children but was once told he will never have a family of his own.

A group of entrepreneurs, inventors, IT experts, medical professionals and other talented motivational speakers came together on Saturday to share their experiences and knowledge with locals and foreign nationals alike in the event.

Salih said the organizers first started the process to host the event in Duhok almost a year ago and after licensing and sponsorship were approved, they were able to put it together.

A total of 11 speakers were each allowed between 15-18 minutes to share their personal stories of life experiences and education to help inspire hundreds of people who joined the event become motivated to create a better future for themselves.

The speakers were mostly from Duhok, but also came from other parts of Iraq and the Kurdistan region such as Sulaimani, Zakho, Bashiqa, Mosul and even as far as Los Angeles, California in the United States.

Here we are trying to look for, promote and bring ideas on stage where they [the speakers] can express their feelings, their ideas freely, Executive Producer, Hussam Mohammed said. I think there are not many places to do this, so TEDx Duhok gives us the platform, the frame where we can bring and motivate young people to bring their ideas.

Mohammed believes it is important for young, creative thinkers to deliver their ideas to others which will encourage and motivate others to move forward in their lives. This was one of the main reasons to bring TEDx to Duhok, he said.

Plus, we think that Duhok people deserve the best and weve tried to bring the best here to Duhok, Muhammad added.

One speaker, Wahid Chicho, age 31 from Duhok, spoke of the struggles and difficulties he had being born as a dwarf. Regardless of the discrimination he faced growing up; he completed his studies and went on to establish the Kurdistan Dwarf Association Duhok Branch.

Wahid Chicho delivers his speech at Duhok's first TEDx event on August 26, 2017. Photo by author.

He had been told that he would never be able to have a family, but today he is married and has two children. Chicho also went on to establish the Kurdistan Paralympic Committee/Duhok Representative Office and the Duhok Disabled Network.

Hezha Khan, age 26, from Sulaimani was another speaker who became Founder/CEO of APC for Youth Empowerment that encourages economically disadvantaged Kurdish youth to become change makers in their local communities. She is also a Country Representative who travels the world encouraging peace in the Middle East and Africa through speeches and workshops.

Khan believes that the government as well as todays youth play a crucial role in bringing about social change and women equality in their communities, especially with the upcoming Kurdish referendum for independence on September 25. Khan encourages people to challenge themselves and to follow their dreams.

Levi Clancy, age 26 from Los Angeles is currently a software developer and freelance journalist living in Erbil. Clancy, who began university when he was 13-years-old and graduated with a major in Microbiology, Immunology and Molecular Genetics and a minor in Mesopotamian History was drawn to the Kurdistan region after visiting as a tourist in 2010.

Clancy spoke about the Kurdistan region as being a safe, tolerant and diverse state in a region torn by war and instability.

He also highlighted the acceptance of the diverse ethnic and religious groups living here.

Clancy described Kurdistan as, It is its own country but for now and against all odds, a country inside of another country.

Because even though the map says Iraq, but the reason that I as an American, as a Jew, with no security or guards or anything, can call this home is because I am in Kurdistan, he added.

Clancy said that as an American he cant say that Kurds should vote yes or no in the upcoming referendum. However, he did say that Kurdistan is a sort of example for the world in the issues of the future.

Video:Levi Clancy, age 26 from Los Angeles is currently a software developer and freelance journalist living in Erbil. He shared his thoughts on Kurdistan and its bid to hold independence referendum.

The event also brought together a diverse group of volunteers of all ages who worked for several months in the planning and physical preparation of hosting a world famous event.

Aryan, age 21, a medical student at the University of Duhok volunteered by helping with photography. She said the group worked well together to bring a meaningful event to their community.

This was the first great step if we are thinking of becoming a great country, Aryan said. TEDx Duhok was the first step towards changing our society. I saw people in the audience getting affected by such great, bright ideas that the speakers were talking about and especially when they introduced Kurdistan to other nations.

When Executive Producer Mohammed was asked if they would bring TEDx back to Duhok again, he responded, This is the end of the beginning. The journey has to continue and well try to do our best to make better results."

I urge the communities around the world to bring TEDx to their communities because communities have ideas and are creative and can do great things, but they need a platform. TEDx can be their platform.

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First TEDx event held in Duhok 'gives people an opportunity to think' - Rudaw

Jasmine I Kerr,1 Andrea Burri,13

1Department of Psychology, University of Zurich, Zurich, Switzerland; 2Department of Physiotherapy, Health and Rehabilitation Research Institute, Auckland University of Technology, 3Waitemata Pain Service, Department of Anesthesia and Perioperative Medicine, North Shore Hospital, Auckland, New Zealand

Abstract: The etiology underlying chronic widespread pain (CWP) remains largely unknown. An integrative biopsychosocial model seems to yield the most promising explanations for the pathogenesis of the condition, with genetic factors also contributing to disease development and maintenance. Here, we conducted a search of studies investigating the genetic and epigenetic epidemiology of CWP through electronic databases including Web of Science, Medline, PubMed, EMBASE, and Google Scholar. Combinations of keywords including CWP, chronic pain, musculoskeletal pain, genetics, epigenetics, gene, twins, single-nucleotide polymorphism, genotype, and alleles were used. In the end, a total of 15 publications were considered relevant to be included in this review: eight were twin studies on CWP, six were molecular genetic studies on CWP, and one was an epigenetic study on CWP. The findings suggest genetic and unique environmental factors to contribute to CWP. Various candidates such as serotonin-related pathway genes were found to be associated with CWP and somatoform symptoms. However, studies show some limitations and need replication. The presented results for CWP could serve as a template for genetic studies on other chronic pain conditions. Ultimately, a more in-depth understanding of disease mechanisms will help with the development of more effective treatment, inform nosology, and reduce the stigma still lingering on this diagnosis.

Keywords: chronic widespread pain, CWP, epigenetics, genetics, twin studies, environment, aetiology

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License.By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

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Genetic and epigenetic epidemiology of chronic widespread pain - Dove Medical Press

More than 60 years ago, Francis Crick and James Watson discovered the double-helical structure of deoxyribonucleic acidbetter known as DNA. Today, for the cost of a Netflix subscription, you can have your DNA sequenced to learn about your ancestry and proclivities. Yet, while it is an irrefutable fact that the transmission of DNA from parents to offspring is the biological basis for heredity, we still know relatively little about the specific genes that make us who we are.

That is changing rapidly through genome-wide association studiesGWAS, for short. These studies search for differences in peoples genetic makeuptheir genotypesthat correlate with differences in their observable traitstheir phenotypes. In a GWAS recently published in Nature Genetics, a team of scientists from around the world analyzed the DNA sequences of 78,308 people for correlations with general intelligence, as measured by IQ tests.

The major goal of the study was to identify single nucleotide polymorphismsor SNPsthat correlate significantly with intelligence test scores. Found in most cells throughout the body, DNA is made up of four molecules called nucleotides, referred to by their organic bases: cytosine (C), thymine (T), adenine (A), and guanine (G). Within a cell, DNA is organized into structures called chromosomes. Humans normally have 23 pairs of chromosomes, with one in each pair inherited from each parent.

A SNP (or snip) is a nucleotide at a particular chromosomal region that can differ across people. For example, one person might have the nucleotide triplet TAC whereas another person might have TCC, and this variation may contribute to differences between the people in a trait such as intelligence. Genes consist of much longer nucleotide sequences and act as instructions for making proteinsbasic building blocks of life.

Of the over 12 million SNPs analyzed, 336 correlated significantly with intelligence, implicating 22 different genes. One of the genes is involved in regulating the growth of neurons; another is associated with intellectual disability and cerebral malformation. Together, the SNPs accounted for about 5% of the differences across people in intelligencea nearly two-fold increase over the last GWAS on intelligence. Examining larger patterns of SNPs, the researchers discovered an additional 30 genes related to intelligence.

As a check on the replicability of their results, the scientists then tested for correlations between the 336 SNPs and level of educationa variable known to be strongly correlated with intelligencein an independent sample of nearly 200,000 people who had previously undergone DNA testing. Ninety-nine percent of the time, the SNPs correlated in the same direction with education as they did with intelligence. This finding helps allay concerns that the SNPs associated with intelligence were false positivesin other words, due to chance. More substantively, the finding adds to the case that some of the same processes underlie intelligence and learning. The authors concluded that the results provide starting points for understanding the molecular neurobiological mechanisms underlying intelligence, one of the most investigated traits in humans.

As the cognitive neuroscientist Richard Haier discusses in his excellent new book The Neuroscience of Intelligence, other intelligence research is combining molecular genetic analyses and neuroimaging. In one study, using a sample of 1,583 adolescents, researchers discovered a SNP implicated in synaptic plasticity that was significantly related to both intelligence test scores and to cortical thickness, as measured by magnetic resonance imaging. In animal research, other researchers are using chemogenetic techniques to turn on and off neurons that may be important for intelligence.

Of course, intelligence is not solely the product of DNAand no scientist studying intelligence thinks otherwise. The environment has a major impact on the development of intelligence, or any other psychological trait. All the same, knowledge gained from molecular genetic research may one day be used to identify children at risk for developing serious intellectual deficits, and for whom certain types of interventions early in life may reduce that risk. This research is also providing a scientific foundation for thinking about how brain functioning might be manipulated to enhance intelligence.

The big picture to emerge from research on the neurobiological underpinnings of intelligence and other psychological traits is that the nature vs. nurture debate is, once and for all, over. We are a product of both our genetic makeup and our environments, and the complex interplay between the two. Research aimed at better understanding this interplay will give scientists a richer understanding of both the similarities and differences in our psychological makeup.

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Intelligence and the DNA Revolution - Scientific American

That statin youve been taking to lower your risk of heart attack or stroke may one day pull double duty, providing protection against a whole host of infectious diseases, including typhoid fever, chlamydia, and malaria.

Scientists recently discovered that a gene variant that affects cholesterol levels could increase risk of contracting typhoid fever. They also learned that a common cholesterol-lowering drug (ezetimibe or Zetia) protects zebrafish against Salmonella typhi, the culprit behind the nasty infection.

The findings clarify the mechanisms that govern human susceptibility to infectious diseaseand also point to possible avenues to protect those most vulnerable to pathogens like the Salmonella bacteria that hijack cholesterol to infect host cells.

This is just the first step, says Dennis C. Ko, assistant professor of molecular genetics and microbiology at Duke University School of Medicine and senior author of the study in the Proceedings of the National Academy of Sciences.

We need to try this approach in different model organisms, such as mice, and likely with different pathogens, before we can consider taking this into the clinic. Whats so exciting is that our study provides a blueprint for combining different techniques for understanding why some people are more susceptible to disease than others, and what can be done about it.

At the turn of the last century, the Irish immigrant Mary Mallon earned the name Typhoid Mary after she sickened more than 50 people in New York City. Mallon was apparently immune to the bacteria she carried, and many people who came into contact with the infamous cook never contracted the disease. What made them different?

That question has long intrigued Ko. However, trying to explain the differences between people when it comes to susceptibility to infectious disease can be tricky: you cant always know whether someone remains healthy because of their genetic constitution or lack of exposure, and even when everyone has been exposed, there are myriad other environmental factors that come into play.

So rather than let the real world run the experiment, researchers used hundreds of cell lines from healthy human volunteers and exposed them to the exact same dose of Salmonella Typhi, which had been tagged with a green fluorescent marker. They then looked for genetic differences that distinguished cells that had higher rates of bacterial invasion from those that didnt.

The findings show that a single nucleotide of DNA in a gene called VAC14 is associated with the level of bacterial invasion in cells. When they knocked out the gene, the cells were invaded more readily and more of the cells glowed brightly with green bacteria. They also unexpectedly found that those more susceptible cells had higher levels of cholesterol, an essential component of cell membranes that Salmonella binds to invade host cells.

Ko wanted to see whether this genetic difference was relevant to humans. By looking through the scientific literature, he decided to reach out to a researcher working in Vietnam, Sarah Dunstan, who had been studying typhoid fever in that country. When Dunstan tested DNA from subjects in a group of 1,000 Vietnamese people, half of whom had typhoid fever and half of whom did not, she found that the VAC14 gene variant was associated with a moderately elevated risk of typhoid fever. The next step was investigating if there was a way to correct that susceptibility.

Discovering the mechanism was important because plenty of people are on cholesterol-lowering drugs, especially statins for high cholesterol, Ko says. We wondered if similar drugs could be given to reduce the risk of Salmonella infection.

Monica Alvarez, a graduate student in Kos lab and lead author of the study, had some experience working with zebrafish, so they decided to start there. She added a cholesterol-lowering drug (ezetimibe or Zetia) to their water and then injected the fish with Salmonella typhi. The treated animals were more likely to clear the bacteria out of their system and survive.

Next, the researchers plan to perform similar experiments in mice and possibly try retrospective studies in humans already taking cholesterol-lowering drugs. They want to explore whether the approach can protect against other infectious diseases, and have already screened other pathogens known to rely on cholesterol at some point during infection.

Our cell-based human genetic approach is a way for us to connect cell biology to human disease, Ko says. By figuring out the mechanism, you can uncover possible therapeutic strategies that you wouldnt think about when just looking at the gene.

The Duke University Whitehead Scholarship, Butler Pioneer Award, the National Institutes of Health, the National Science Foundation, Australian National Health, the Medical Research Council, and the Wellcome Trust funded the work.

Source: Duke University

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Can statins shield us from malaria and typhoid? - Futurity: Research News