| Clinical Significance: | Detects variations in the coding sequence of the CYP11B1 and CYP21A2 genes, as well as the common 30kb deletion in CYP21A2 in patients with congenital adrenal hyperplasia. Patients exhibit ambiguous genitalia in infants; premature adrenarche; hirsutism and/or oligomenorrhea in women; family history of congenital adrenal hyperplasia. The classic forms 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), Sanger Sequencing
|
| Reference Range: | No sequence variation detected and no deletion detected |
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 |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-21 days |
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