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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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| 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 |
| 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), 83892(1), 83894(1), 83898(3), 83904(8), 83909(9), 83912(1) |
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| CPT 2013: |
81402(1), 81405(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) |
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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: |
28 days |
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