News
-
2009-11-09
Welcome to the supplemental edition of our Fall Newsletter. Emory Genetics Laboratory (EGL) is part of the Department of Human Genetics in the School of Medicine. Our mission is to translate genetic discoveries for use in patient care with our unique combination of faculty-devoted basic research and Emory Genetics Laboratory's...... Read more -
2009-09-28
Welcome to the Fall 2009 edition of the Emory Genetics Laboratory (EGL)newsletter. This issue features an introduction to newborn screeningdisorders confirmatory testing from Dr. Lora Bean, PhD, FACMG,Laboratory Director and Assistant Professor in the Department of Human Genetics. For more details please go to: http://genetics.emory.edu/egl/newsletter/2009_Fall.html...... Read more -
2009-07-01
Welcome to the July 2009 edition of the Emory Genetics Laboratory (EGL) newsletter. This issue features an introduction to familial cancer syndrome genetic testing from Dr. Madhuri Hegde, PhD, FACMG, an Assistant Professor in the Department of Human Genetics and a Senior Laboratory Director at EGL.
For more details please...... Read more -
2009-06-08
As a participant in the ISCA (International Standard Cytogenomic Array) Consortium, Emory Genetics Laboratory retains patient samples indefinitely for validation, educational purposes and/or research. The submitted clinical information and test results are also included in a HIPAA-compliant, de-identified public database as part of the National Institute of Health's effort to...... Read more -
2009-04-23
Stephen T. Warren, PhD., David H. Ledbetter, PhD, Christa Lese Martin, PhD, and Joseph Cubells, MD, PhD, four Emory Genetics researchers, are featured in the article, Autism Family Album, in the Spring 2009 issue of Emory Health. Read further as these leading scientists discuss their work to unravel the genetic...... Read more -
2009-04-03
The International Standard Cytogenomic Array (ISCA) Consortium is a rapidly growing group of clinical cytogenetics and molecular genetics laboratories committed to improving quality of patient care related to clinical genetic testing using new molecular cytogenetic technologies including array comparative genomic hybridization (aCGH) and quantitative SNP analysis by microarrays or bead...... Read more -
2009-03-24
Emory Genetics Laboratory now offers over 80 new molecular tests. Please call our client service team at 404-778-8499 or 800 ?366-1502, option 0, for assistance to order these tests....... Read more -
2009-03-24
Emory Genetics Laboratory is proud to announce the availability of over 80 new sequencing and gene targeted CGH tests, plus a new customizable test requisition form is now available at http://genetics.emory.edu/reqforms to best accommodate your testing needs http://genetics.emory.edu/egl/newsletter/2009_March.html...... Read more -
2009-03-24
MMACHC - Methylmalonic Aciduria and Homocystinuria, cblC Type (Vitamin B12-Responsive) Galactosemia Update The 4bp promoter deletion is now included in the full gene sequencing and panel test. Galactosemia panel. The panel will now consist of GALT enzyme activity, Gal-1-P concentration, and GALT common mutation panel. The GALT isozyme pattern will be phased...... Read more -
2009-03-24
Sequence analysis testing is now being offered for CHD7 - CHARGE Syndrome PTPN11 - Noonan Syndrome Emory Genetics Laboratory now offers over 80 new molecular tests. Please call our client service team at 404-778-8499 or 800 ? 366-1502, option 0, for assistance to order these tests....... Read more -
2009-03-24
PLAGL1 (ZXASC) & HYMAI - UPD 6 - 6q24-related Transient Neonatal Diabetes Mellitus Emory Genetics Laboratory now offers over 80 new molecular tests. Please call our client service team at 404-778-8499 or 800 ? 366-1502, option 0, for assistance to order these tests....... Read more -
2009-03-24
PKD2 - Autosomal Dominant Polycystic Kidney Disease PKHD1 - Autosomal Recessive Polycystic Kidney Disease EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5 - Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Disease UMOD - Medullary Cystic Kidney Disease 2 NPHP1, NPHP2, NPHP3, NPHP4 - Nephronophthisis PRKCSH and SEC63 - Polycystic Liver Disease...... Read more -
2009-03-24
Sequence analysis and deletion/duplication testing is now being offered for hereditary cancer syndromes.FLCN - Birt-Hogg-Dube Syndrome FH - Hereditary Leiomyomatosis and Renal Cell Cancer Hereditary Non-Polyposis Colon Cancer MLH1, MSH2, MSH6, PMS2 Microsatellite instability testing Immunohistochemistry SMAD4 - Juvenile Polyposis Syndrome CDKN2A - Melanoma Pancreatic Cancer MEN1 - Multiple Endocrine...... Read more -
2009-03-24
Sequence analysis and deletion/duplication testing is now being offered for X-linked Mental Retardation DisordersSLC16A2 - Allan-Herndon-Dudley Syndrome PHF6 - Borjeson-Forssman-Lehmann Syndrome LAMP2 - Danon Disease/Glycogen Storage Disease Type IIB JARID1C - JARID1C-Related Syndromic X-Linked Mental Retardation NDP - NDP-Related Retinopathies/Norrie Disease PDHA1 - Pyruvate Dehydrogenase Deficiency PQBP1 - Renpenning Syndrome...... Read more -
2009-02-27
EMORY Health Sciences News
http://emoryhealthsciences.org
Feb. 27, 2009
Millions Around World To Observe Rare Disease Day
... Read more -
2008-12-08
Alpha-galactosidase A enzyme activity for Fabry disease performed on dried blood spots.
Fabry disease may be suspected
in patients with heart disease and renal dysfunction. Our fluorometric
measurement of alpha-galactosidase A activity has high sensitivity for
affected males and as many as two-thirds of carrier females may be
detected. Offering the enzyme activity on...... Read more -
2008-11-13
Welcome to our December 2008 newsletter. It was a pleasure to meet
everyone that visited our booth at the recent professional meetings and
we look forward to meeting your testing needs in the coming New Year.
Season?s Greetings from everyone at Emory Genetics Laboratory!...... Read more -
2008-11-11
In addition to the X-linked intellectual disability (XLID) 64-gene deletion/duplication array already being offered, EGL is now offering sequence analysis and del/dup testing for many of the single genes that are found on the panel. Genes offered include: ACSL4/FACL4 - ACSL4/FACL4-Related Disorders (MRX63)AFF2/FMR2 - FRAXESyndromeARX - ARX-Related DisordersATP7A - MenkesDiseaseATRX -...... Read more -
2008-11-11
Sequence analysis and deletion/duplication testing is nowbeing offered for hereditary cancer syndromes. Genes offered include APC, MUTYH, p53, PTEN, and REQL4. APC - FamilialAdenomatous PolyposisMUTYH - MYH-Associated Polyposis (a two mutationpanel is also being offered)p53 - Li-FraumeniSyndromePTEN - PTEN Hamartoma Tumor Syndrome (CowdenSyndrome)RECQL4 - Rothmund-Thomson Syndrome Please see individual test...... Read more -
2008-11-11
Testing is now being offered for both maternal and paternal uniparental disomy (UPD) of chromosome 14. This analysis uses methylation-specific PCR for a differentially methylated region (DMR) upstream of the MEG3 gene (14q32.2). This test will detect both maternal and paternal UPD14. Parental samples are NOT required for this testing.Please...... Read more -
2008-07-09
Two new sequencing tests now available at Emory Genetics Laboratory: Carnitine palmitoyltransferase 1A (CPT1A) deficiency, CPT1A gene sequencing; and myophosophorylase deficiency (McArdle disease), PYGM gene sequenicng.For both conditions, testing for mutations (deletions/duplications) not identified by full gene sequencing will soon be available using a targeted CGH array....... Read more -
2008-06-05
X-linked Mental Retardation (XLMR): Sequencing of the SLC9A6 gene, also known as Angelman-Like Syndrome, is now available at the Emory Genetics Laboratory....... Read more -
2008-05-01
Two faculty members in the Department of Human Genetics at Emory University received prestigious awards at the March meeting of the American College of Medical Genetics in Phoenix, Ariz. David H. Ledbetter, Ph.D., Robert W. Woodruff Professor of Human Genetics and Director of the Division of Medical Genetics, was awarded...... Read more -
2008-04-23
Emory Genetics Laboratory now offers sequence analysis for more than 30 genes responsible for inherited metabolic disorders and disorders detected on newborn screening, including congenital hypothyroidism, congenital adrenal hyperplasia, G6PD deficiency, citrullinemia, homocystinuria, isobutyryl-CoA dehydrogenase deficiency, and many others! Click here for full list of new tests. Refer...... Read more -
2007-12-21
Emory Genetics Laboratory 2008 calendars are in stock. Order yours today!...... Read more -
2007-11-19
Sequence analysis of the entire mtDNA genome is available to testfor mitochondrial mutations. This test is intended for patients with adiagnosis of a mitochondrial disorder. If applicable, testing for commonmutations associated with specific mitochondrial disorders should be performedfirst. Low levels of heteroplasmy may not be detected....... Read more -
2007-10-23
New in October 2007!Emory Genetics Laboratory now offers sequence analysis for more than 30 genes responsible for inherited metabolic disorders, including propionic academia, isovaleric...... Read more -
2007-09-19
September 13, 2007 To Our Valued Clients,Effective September, 2007, Emory Genetics Laboratory (EGL) is raising the price of all laboratory tests by 5%, due to rising laboratory supply costs.Emory Genetics Laboratory (EGL) takes pride in consistently keeping genetic...... Read more -
2007-08-31
Chromosome Analysis, Autism Panel, and Prenatal Molecular Testing Autism PanelThe Emory Genetics Laboratory Autism Panel will...... Read more -
2007-08-15
Emory\'s Lysosomal Storage Disease Center is using the most advanced enzyme replacement technologies, which over the past 15 years have changed the lives of hundreds of patients. More....... Read more -
2007-08-15
A new genetic test targeting the most common types of muscular dystrophy is far quicker with greater accuracy and sensitivity than existing tests. See link below for more details....... Read more -
2007-05-31
Now Available: EmArray Cyto 6000 Chromosome Microarray? Targeted vs Whole Genome: Now You Don?t Have to Choose! For more details, please visit our EmArray page....... Read more -
2007-05-31
Please visit our Billing page for updated information on Insurance. ...... Read more -
2007-05-31
A new General Test Requisition form is now available. Please visit our Forms and Documents page to download the new version. ...... Read more -
2007-05-31
Emory Genetics Laboratory is proud to announce a new Lysosomal Storage Disorders Test Requisition. This form (PDF) can be obtained by going to our Forms and Documents page, or click the link below. ...... Read more -
2007-05-31
Now Available: EmArray Dystrophin: Comprehensive Dystrophin Analysis for Males, Females, & Prenatal Specimens.? For more details, please visit our EmArray page by clicking the link at the top of the site....... Read more
|
|
RSS