Tag: GeneDX

1 SCV000301220.2 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Pathogenic reviewed by expert panel curation Breast-ovarian cancer, familial, susceptibility to, 2 (unknown ) germline Variant allele predicted to encode a truncated non-functional protein. 1 SCV000785901.2 Counsyl Pathogenic criteria provided,single submitter clinical testing Breast-ovarian cancer, familial, susceptibility to,…

Likely benign (Nov 17, 2018) criteria provided, single submitter Method: clinical testing Arrhythmia Affected status: unknown Allele origin: germline Color Health, Inc Accession: SCV001358509.1 Submitted: (May 19, 2020) Likely benign (Apr 19, 2020) criteria provided, single submitter Method: clinical testing Long QT syndrome Affected status: unknown Allele origin: germline Invitae…

1 SCV000610624.1 Center for Pediatric Genomic Medicine,Children’s Mercy Hospital and Clinics Benign criteria provided,single submitter clinical testing not provided (not provided ) germline 1 SCV000700353.2 Eurofins NTD, LLC Uncertain significance criteria provided,single submitter clinical testing 1 not provided (unknown ) germline 1 Single Heterozygote www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYP21A2 mixed 1 SCV001137083.1 Mendelics Benign…

GAITHERSBURG, Md., Sept. 21, 2021 /PRNewswire/ — GeneDx, Inc., a leader in genomic analysis, a wholly owned subsidiary of BioReference Laboratories, Inc., an OPKO Health company (NASDAQ: OPK), today announced it has completed clinical genetic exome sequencing for more than 300,000 patients, making the company’s dataset the largest of its kind…

GAITHERSBURG, Md., Sept. 21, 2021 GAITHERSBURG, Md., Sept. 21, 2021 /PRNewswire/ — GeneDx, Inc., a leader in genomic analysis, a wholly owned subsidiary of BioReference Laboratories, Inc., an OPKO Health company (NASDAQ:OPK), today announced it has completed clinical genetic exome sequencing for more than 300,000 patients, making the company’s dataset…

Xia-Gibbs Syndrome (XGS) is a rare genetic disorder that results in severe developmental delay, sleep apnea, delayed speech and upper body weakness. Image courtesy of the National Human Genome Research Institute In 2014, a team led by Dr. Richard Gibbs, director of the Human Genome Sequencing Center and Wofford Cain Chair and…

GeneDx is a rapidly growing CAP and CLIA certified diagnostic genetic testing laboratory for molecular genetics. Our historic mission has been to make clinical diagnostic testing available for people with genetic conditions and their families. We apply cutting edge technologies that provide a wide array of molecular genetic diagnostic tests,…