XomeDxSlice – EB Using whole exome capture and sequencing, ALL of the known genes for the various forms of Epidermolysis Bullosa (Dystrophica, Simplex, Junctional) can be analyzed at one time, achieving substantial savings in both cost and time, with little loss of sensitivity. In most cases, this should now be the test of first choice [...]
The Comprehensive Maturity-Onset Diabetes of the Young (MODY) Panel utilizes Next-Generation Sequencing technology to analyze 5 genes (GCK, HNF1A, HNF1B, HNF4A, PDX1) associated with MODY, making it the most comprehensive genetic testing available for these disorders. For more information please click here.
Eleven new genes (ACTN2, ANKRD1, CSRP3, EMD, NEXN, RBM20, SCN5A, TCAP, TNNC1, TTN, and VCL) have been added to make our test even more comprehensive. Based on recent publications these additional genes are expected to increase this panel’s detection rate by approximately 20% (Herman 2012, McNair 2011). For more information please view our Dilated Cardiomyopathy [...]
The GeneDx Comprehensive Severe Combined Immunodeficiency (SCID) Panel is available now! The Comprehensive Severe Combined Immunodeficiency (SCID) Panel utilizes Next-Generation Sequencing technology to analyze 18 genes associated with SCID disorders, making it the most comprehensive genetic testing available for these disorders.
The GeneDx Comprehensive Mitochondrial Nuclear Gene Panel (sequencing and deletion/duplication testing for 101 genes) Available Now! Comprehensive Analysis of 101 Nuclear Genes for Clinical Molecular Diagnosis of Mitochondrial Disorders by: Next-Generation Sequencing (using PCR-based sequence enrichment*) and Exon-Level Deletion/Duplication analysis.
The GeneDx Prenatal Targeted Array is a combined CGH and SNP array for detecting copy number changes and uniparental disomy (UPD), respectively. This array contains 42,000 oligonucleotide probes placed throughout the genome and within 100 common or novel microdeletion and microduplication syndromes as well as those involving subtelomeric regions and any other intrachromosomal region greater [...]
Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder caused by mutations in the SMAD4 and BMPR1A genes. Juvenile polyps are hamartomatous lesions in the gastrointestinal (GI) tract with a distinct histological appearance of normal epithlium with cystic glands embedded in hyperplastic stroma and inflammatory infiltrate.
GeneDx Unveils XomeDx, A Groundbreaking Test to Identify Rare Inherited Diseases Sun, 10/09/2011 – 22:53 GeneDx is pleased to announce a first-of-its-kind test that will enable physicians and patients to more accurately identify the genetic cause of rare diseases. This genetic test is useful when a patient has gone through all the routine diagnostic tests and [...]
As of October 3 2011, GeneDx’s Noonan syndrome panel will also include the CBL and NRAS genes. The GeneDx Comprehensive Noonan Syndrome Panel has been expanded to include 11 genes (BRAF, KRAS, HRAS, NRAS, MAP2K1, MAP2K2, PTPN11, RAF1, CBL, SOS1, SHOC2) for post-natal testing. Disorders of the Noonan Spectrum, including Noonan, LEOPARD, Cardio-facio-cutaneous (CFC) and [...]
GeneDx arrays now detect copy number variations and UPD. The GeneDx Prenatal Targeted Array is a combined CGH and SNP array for detecting copy number changes and uniparental disomy (UPD), respectively. This array contains 42,000 oligonucleotide probes placed throughout the genome and within 100 common or novel microdeletion and microduplication syndromes as well as those [...]
Now Available: Genetic Testing for Cerebral Cavernous Malformations Tue, 04/05/2011 Cerebral cavernous malformation (CCM) is a heterogenous disorder that arises from malformed capillary clusters within the central nervous system. Without support of the surrounding brain parenchyma and weakened epithelial walls, blood vessels are prone to leakage. Clinical symptoms range from non-specific headaches to seizures and [...]