Hydroxylase Gene (CYP21A2) Full Gene Analysis


Sunquest Code:CYPZ  
Epic Code:LAB7028Epic 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
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.
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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