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Test Catalog
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CYP11B1 (CAH) DNA Sequencing Test |
#875 |
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| Type of Disorder: |
Adrenal |
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| Typical Presentation: |
Classic: females can be born with ambiguous genitalia; Non-classic form shows mild adrenal androgen excess only |
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| Indications for Testing: |
Ambiguous genitalia in infants; premature adrenarche; Hirsutism and/or oligomenorrhea in women; family history of congenital adrenal hyperplasia |
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| Disease(s) tested for: |
Congenital Adrenal Hyperplasia |
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| Test Details |
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| Test Code: |
875 |
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| Profiles that contain this test: |
Congenital Adrenal Hyperplasia (CAH) Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects mutations in coding sequence of CYP11B1, including point mutations, small deletions, insertions and rearrangements |
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| Methodology: |
Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of the gene; for CYP11B1: screening for 30kb-deletion-specific PCR product. |
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| CPT Code(s): |
83891(1), 83898(8), 83904(8), 83912(1) |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 mL (pediatric minimum 2 mL) |
| Collection Tube: |
Lavender top (EDTA) or yellow top (ACD-A) |
| Stability: |
Hemolysis may compromise DNA recovery and integrity after 48 hours |
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| Storage Conditions: |
For short periods (until shipped) At 4°C
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| Shipping Conditions: |
Overnight at room temperature (specimen arrival must be less than 24 hrs after collection); ship Monday through Thursday only. |
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| Test Turnaround: |
2 - 8 weeks |
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