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Test Catalog
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CYP21A2 (CAH) Evaluation |
#880 |
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| Type of Disorder: |
Adrenal |
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| Typical Presentation: |
Classic form with severs enzyme deficiency and prenatal onset can be salt wasting 75% or simple virilizing 25%; 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: |
880 |
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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 variations the coding sequence of the CYP21A2 gene, as well as the common 30kb deletion in CYP21A2. |
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| Methodology: |
Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of the gene; for CYP21A2: screening for 30kb-deletion-specific PCR product.
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| Reference Value: |
No mutation detected |
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| CPT Code(s): |
83891(1), 83898(11), 83904(9), 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) |
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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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