Hydroxylase Gene (CYP21A2) Full Gene Analysis
| Abbrev Code: | CYPZ | ||
| Order Code: | LAB7028 | Order Name: | CYP21A2 Full Gene Analalysis |
| Synonyms: | CAH 21 Hydroxylase Deficiency; CYP21A2; CAH-21 Hydroxylase Gene (CYP21A2) Full Gene Analysis | ||
| Methodology: | Polymerase chain reaction (PCR) amplification/DNA sequencing | ||
| CPT Codes: | 81405 x1, 81402 x1 | ||
| Turnaround Time: | Specimens are sent to reference laboratory Mon-Fri; results are reported within 12-21 days. | ||
| Special Instructions: | Send specimen in the original container, preferably within 96 hours of collection, with a completed CYP21A2 Gene Testing Patient Information Sheet (see Associated Links). A signed informed consent in the patient's medical record is required; the consent form should not be sent to the laboratory. See Associated Links. | ||
| Compliance: | This test was developed and its performance characteristics determined by Laboratory Medicine and Pathology, Mayo Clinic. This test has not been cleared by the U.S. Food and Drug Administration. |
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| Associated Links: | Genetic Testing Consent Form, CYP21A2 Gene Testing Patient Information Sheet |
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Collection Instructions
| Specimen: | Blood |
| Optimal Volume: | 3 mL |
| Minimum\Peds Volume: | 1 mL |
| Container: | Purple (EDTA) |
Processing and Shipping
| Specimen Processing: | Whole blood. Do not process. Store at room or refrigerated temperature. |
| Shipping Instructions: | Ship in original container at refrigerated temperature to arrive within 96 hours of collection. |
| Test Performed at or Referral Lab | Lab Sendouts (Mayo Medical Laboratories) |
| Referral Lab number: | CYPZ |
Interpretive
| Reference Range: | By report. |
| Use: | This test aids in carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH). Full gene sequencing and multiplex ligation-dependent probe amplification are used to detect the common pathogenic CYP21A2 variants, CYP21A2 full gene deletions, and rare CYP21A2 variants. |
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