CAH (21-Hydroxylase Deficiency) Common Mutations

Abbrev Code:XMISC   
Order Code:LAB4909Order Name:Laboratory Miscellaneous Order
Synonyms:CYP21A2 Common Mutation Panel
Methodology:Polymerase chain reaction, Electrophoresis
CPT Codes: 81402 x1
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 7-14 days.
Special Instructions: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.

This test was developed and its performance characteristics determined by Quest Diagnostics Nichols Institute, San Juan Capistrano. Performance characteristics refer to the analytical performance of this test.

Associated Links:

Genetic Testing Consent Form

Collection Instructions

Optimal Volume:5 mL
Minimum\Peds Volume:3 mL
Container:Purple (EDTA)
Alternate Containers: Trace Element, EDTA (DE), Yellow (ACD, Solution A) tube available from laboratory, Yellow (ACD, Solution B) tube available from laboratory
Causes for Rejection:Heparinized or frozen specimens.

Processing and Shipping

Specimen Processing:Whole blood. Do not process.
Shipping Instructions:Ship same day at room temperature.
Stability:8 days at room temperature or refrigerated
Test Performed at or Referral Lab Lab Sendouts  (Quest Diagnostics)
Referral Lab number:14755


Reference Range:By report.
Use:Order to confirm the diagnosis of CAH following suggestive biochemical testing.

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