- Cardiac Disorders
- Disorders of Sex Differentiation
- Dysmorphology Disorders
- Endocrine Disorders
- Eye Disorders
- Hematologic Disorders
- Hereditary Cancer Syndromes
- Immunologic Disorders
- Metabolic Disorders
- Mitochondrial Disorders
- Neurological Disorders
- Prenatal Diagnosis
- Renal Disorders
- Rheumatologic Disorders
- Skeletal Disorders
- Skin Disorders
In observance of Thanksgiving, GeneDx will be closed and will not accept specimens on Thursday, November 26, 2015. We will accept specimens but operate on a modified schedule on Friday, November 27, 2015. We will resume our normal schedule on Saturday, November 28, 2015. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
What We DoGeneDx specializes in genetic testing for rare hereditary disorders. Our mission is to make clinical testing available to people with rare genetic conditions and their families. Most of our tests include full gene analysis by DNA sequencing, the gold standard of genetic testing. We invite you to explore our site, where you will find comprehensive information and all of our paperwork. Please note that GeneDx does not provide Direct-to-Consumer testing. All tests must be ordered, and results sent to a health care provider, usually a physician or genetic counselor. Families are encouraged to present our material to their health care providers who can evaluate the appropriateness of testing. For diagnostic testing in rare disorders, contact GeneDx… Where rare is common.
- New ACMG Guidelines
Recently the American College of Medical Genetics published new guidelines for the interpretation of genetic sequence variants (Richards et al. (2015) Genetics in Medicine: Official Journal of the American College Of Medical Genetics: (PMID: 25741868). The process of variant interpretation is dynamic and challenging. The purpose of the guidelines is to standardize the terminology used by clinical laboratories when describing variants, and to establish specific criteria that should be utilized when interpreting sequencing variants. On Wednesday, September 30, 2015, GeneDx transitioned to using the new ACMG terminology in our reports. The chart below outlines the new terminology as it relates to our previous report language. Additionally, over the next 6 months, GeneDx will be implementing the guidelines into our variant interpretations. Please continue to check our website for updated information and announcements as we move forward with the implementation of these new guidelines.
Previous GeneDx Terminology New Terminology Based on ACMG Guidelines Mutation Pathogenic variant Variant, likely mutation/variant, likely disease-causing/expected pathogenic Likely pathogenic variant Variant of unknown significance Variant of uncertain significance Variant, likely benign Likely benign variant Benign polymorphism Benign variant
Likely benign Variants
Variants that are interpreted to be “likely benign” have multiple lines of evidence supporting the argument that they are not the cause of disease in an individual. Therefore, in accordance with the ACMG guidelines, as of Thursday, October 29, 2015, GeneDx will no longer routinely report likely benign variants in our reports. A list of benign and likely benign variants can be provided upon request.
- American Medical Association Video
Click on the link below to view the recent AMA video used to educate and lobby against FDA regulation of laboratory developed tests with voice over done by our co-founder, Sherri Bale.
- Interested in Genetic Counseling? Attend our Prospective GC Visitors' Day
Interested in pursuing a career in genetic counseling? Please join us at our GeneDx Prospective GC Visitors’ Day, an event dedicated to providing you with inside information about the field of genetic counseling. Learn about the many roles of genetic counselors at GeneDx, engage in lively discussions and learn about becoming a more well-rounded GC graduate school applicant and career options in general.
Date: August 13, 2015
Time: 9-1pm ET
Location: GeneDx 207 Perry Parkway, Gaithersburg, MD 20877
RSVP: Meg Bradbury, MS, CGC, MSHS (email@example.com) by August 7, 2015
If you are not in the Maryland area please join us remotely! For further information please contact Mbradbury@genedx.com to RSVP and request a login to join us online.Please pass on to anyone who might be interested.
- Now available! Neuromuscular Disorders Panels
Neuromuscular Disorders Panel ( 76 genes)
Limb-Girdle Muscular Dystrophy Panel
Syndromic Congenital Muscular Dystrophy Panel
Congenital Myopathy & Muscular Dystrophy Panel
Myofibrillar Myopathy Panel
For more information, please visit www.genedx.com/neuromuscular
- NOW AVAILABLE! STAT Epilepsy Panel
STAT Epilepsy Panel
2 week turnaround time
Sequencing and Del/Dup of 18 Genes(ALDH7A1, ARX, CDKL5, FOLR1, KCNQ2, KCNQ3, MECP2, MEF2C, PCDH19, PNPO, POLG, SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SPTAN1, STXBP1)
For more information please click here.
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