Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that limits adrenal glands’ ability to produce certain vital hormones, causing altered development of primary or secondary sex characteristics in affected infants and children, or adults. It can be fully treated when detected early through newborn screening with high sensitive molecular diagnostic tests.Features & Benefits
Screening for congenital adrenal hyperplasia (CAH) mutations on CYP21, using allele-specific primer extension (ASPE) and bead-array hybridization.
Detection of the 10 major point mutations and the 8 bp deletion at Chromosome 6p21.3
Detection of a large deletion between CYP21A1p and CYP21A2
Semi-quantitative test with bead array for point mutation and agarose electrophoresis for a large deletion
Approximately 8hours from DNA extraction to data reporting.
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