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 |
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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