Carrier screens for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy detected carrier status in one in 20 individuals and led to diagnoses in seven pregnancies.
Under a five-year NIH grant, the researchers will evaluate whether earlier diagnosis of fragile X and SMA leads to earlier intervention and improved outcomes.
Couples can now buy cystic fibrosis and spinal muscular atrophy carrier screening tests through Amazon, though a doctor will have to approve the order.
NEW YORK (GenomeWeb) – Natera and the Mount Sinai Genetic Testing Laboratory today announced a partnership to offer Natera's genetic carrier screening test.
NEW YORK (GenomeWeb News) – Genetic testing firm Counsyl has partnered with ARUP Laboratories to offer pre-pregnancy and pregnancy testing for more than 100 recessive genetic disorders.
By Adam Bonislawski
The Spinal Muscular Atrophy Foundation said this week that it has developed a 27- protein plasma biomarker panel for use in SMA research.
