Molecular Test Listing

Molecular Requisition

Mutations in the steroid 21-hydroxylase gene (chromosome 6) cause most of the salt-wasting forms of CAH and much of the milder non-salt-wasting forms. Approximately 75% of the mutational defects are known. The most common mutation is an A or C to G mutation 12bp upstream of the 3rd exon causing inappropriate gene splicing. Additional mutation testing sites include an 8bp mutation, the absence of the gene (null), M239K, V281L, Q318X, R356W, I236N, I172N, F306+T, and V237E.

REASONS FOR REFERRAL:

• Parents with an affected child in order to make family planning decisions.
• Individuals with an affected sibling.
• Newborns with ambiguous genitalia.
• Individuals at risk who wish prenatal diagnosis.

• PCR analysis and sequencing to detect a mutations. A "null" allele cannot be detected during carrier analysis.

• Blood EDTA (purple top) tubes:  

            Newborn: minimum 1-2 mL          

            Child/Adult: prefer 2 tubes of 3-5 mL

• Prenatal testing: Please contact the laboratory for instructions.

TURNAROUND TIME:     15 working days