WebJan 9, 2024 · GeneDx, (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment and improve drug discovery. The company is uniquely positioned to accelerate the... WebDescription 21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of …
21-hydroxylase deficiency: MedlinePlus Genetics
WebApr 12, 2024 · The CYP21A2/Cyp21a1 gene and its related pseudogene CYP21A1P/Cyp21a2-p are located in the major histocompatibility (MHC) locus neighboring 3 other genes which are serine/threonine kinase 19 ( STK19/Stk19 ), complement C4A/C4a and C4B/C4b as well as tenascin-X A and B ( TNXA/B, Tnxa/b ). WebMay 31, 2024 · A combined testing approach involving PCR amplification, bi-directional sequence analysis, and multiplex ligation-dependent probe amplification (MLPA) is used … green revision cards
Mutational analysis of CYP21A2 gene and CYP21A1P pseudogene …
WebMar 16, 2024 · GAITHERSBURG, Md., March 16, 2024 /PRNewswire/ -- GeneDx, Inc., a leader in genomic analysis, today announced newly published research demonstrating the value of data sharing and research... WebEach chimeric CYP21A1P/CYP21A2 gene contains one to multiple of the 12 most common pathogenic variants depending on the location of junction site (Chen et al. 2012. PubMed ID: 22156666). The classification (determination of junction site) of chimeric CYP21A1P/CYP21A2 genes is clinically relevant. WebMar 29, 2024 · Summary. This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates … green return of the jedi girl