Good Start Genetics this week presented results from a validation study of its next-generation sequencing-based carrier screening technology at the American Society for Reproductive Medicine annual meeting.
Using proprietary multiplex gene capture, next-gen sequencing, and computational analysis, the researchers analyzed 56 samples containing at least one out of a total of 93 previously characterized disease-causing mutations, according to the meeting abstract. Several of the samples contained two mutations because they were obtained from compound-heterozygous individuals affected by the disease.
The researchers accurately identified all 93 mutations, which are associated with eight genetic disorders: Canavan disease, maple syrup urine disease, cystic fibrosis, glycogen storage disease 1a, Tay-Sachs, familial dysautonomia, mucolipidosis IV, and Niemann-Pick type A.
The company plans to launch its carrier screening test commercially in the first quarter of 2012.