| Test code: | 875 |
| Type of disorder: | Adrenal |
| Disease(s) tested for: | Congenital Adrenal Hyperplasia |
| Genes Included: |
CYP11B1, |
| Profiles that contain this test: | Congenital Adrenal Hyperplasia (CAH) Evaluation |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects mutations in coding sequence of CYP11B1, including point mutations, small deletions, insertions and rearrangements
Typical Presentation: Classic: females can be born with ambiguous genitalia; Non-classic form shows mild adrenal androgen excess only
Indications for testing: Ambiguous genitalia in infants; premature adrenarche; Hirsutism and/or oligomenorrhea in women; family history of congenital adrenal hyperplasia
|
| Methodology: |
Sanger Sequencing
|
| Reference Range: | No sequence variation 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: | 14-28 days |
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