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Test Code 1419

Congenital Adrenal Hyperplasia (CAH) via the CYP21A2 Gene

CYP21A2

3 - 4 weeks (12 - 20 days STAT)

Who is this test for?
  • Individuals or fetuses with a clinical or suspected diagnosis of congenital adrenal hyperplasia (CAH)
  • Individuals with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) and hypermobility Ehlers-Danlos syndromes (EDS) (hEDS) (also known as CAH-X syndrome)
  • Individuals with abnormal newborn screening results suggesting 21-hydroxylase deficiency (21-OHD)
  • Reproductive partners of individuals with a known pathogenic variant in the CYP21A2 gene
Method
Sanger Sequencing
Specimen(s)

Blood, Buccal, Saliva, Tissue

Order Options

OTHER OPTIONS
for pricing.

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