Carrier Screening US
The mutation list comprising the Gene by Gene Carrier Screen test adheres to recommended regulatory agency guidelines, curated databases and peer-reviewed manuscripts. It is relevant pan-ethnically with an enrichment on mutations known to affect the various Jewish populations. All founder mutations currently recommended for the various Jewish communities and many mutations recommended for the general population are screened within Gene by Gene Carrier Screen. In addition, an expanded panel for CFTR mutations (that cause Cystic fibrosis, which is the most common life-limiting autosomal recessive disorder in persons of northern European ancestry) includes all mutations recommended for screening by experts on the subject and augmented by the CFTR2 curated database content. Moreover, our innovative genotyping platform allows for the detection of DMD gene deletions and duplications, known to cause Duchenne muscular dystrophy. Finally, additional mutations reported to cause a broad range of disorders is included. Gene by Gene Carrier Screen also routinely tests for Fragile X syndrome and Spinal muscular atrophy which are conditions recommended to be tested for in all populations, regardless of the ethnic background.