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Test Code 16165

CYP21A2 Whole Gene Duplication Test

CYP21A2

2 - 3 weeks (8 - 10 days STAT)

Who is this test for?
  • Family members of patients who have tested positive for a whole CYP21A2 duplication
  • Individuals whose prior genetic testing, including next generation sequencing (NGS) based copy number variation (CNV) analysis, suggests a whole CYP21A2 duplication but confirmation through an orthogonal method is needed, especially concurrent with the pseudogene-derived pathogenic variant c.955C>T (p.Gln319*) (also known as Q318X; NM_000500.7)
  • Individuals who were found to have the c.955C>T (p.Gln319*) variant and another pathogenic variant but are not clinically affected by congenital adrenal hyperplasia (CAH)
  • Fetuses whose father carries a whole CYP21A2 duplication and a sequence variant of interest, especially the c.955C>T (p.Gln319*) variant, where the phase is unknown
Method
Targeted PCR
Specimen(s)

Blood, Saliva, or Buccal Swab

Order Options

OTHER OPTIONS
for pricing.

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