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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. |
| CPT Coding |
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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.
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| Stacked CPT Code(s): |
83891(1), 83898(8), 83904(8), 83909(1), 83912(1) |
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| Shipping Considerations |
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| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
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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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