| Clinical Significance: | Detects the common 30kb deletion in CYP21A2 in patients with Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency. Patients exhibit ambiguous genitalia in infants; premature adrenarche; hirsutism and/or oligomenorrhea in women; family history of congenital adrenal hyperplasia. The classic form presents with severe enzyme deficiency and prenatal onset and can be salt wasting (75%) or simple virilizing (25%); the non-classic form shows mild adrenal androgen excess only. |
| Methodology: |
Restriction Fragment Length Polymorphism (RFLP)
|
| Reference Range: | See Laboratory Report |
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: |
Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: |
8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum) |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients 0-3 years have higher WBC, yielding more DNA per mL of blood.
DNA yields and quality are better in fresh specimens. However, when necessary, most genetic tests are successful from DNA purified from whole blood that is several days old. |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-21 days |
Home