CAH (21-Hydroxylase Deficiency) Rare Mutations

Abbrev Code:XMISC   
Order Code:LAB4909Order Name:Send Outs Misc Test
Synonyms:CYP21A2 Rare Mutations
Methodology:Polymerase chain reaction; DNA sequencing
CPT Codes: 81405 x1
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 3-4 weeks.
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: Green (sodium heparin, no gel)
Causes for Rejection:Frozen specimens or samples greater than 8 days old at time of testing.

Processing and Shipping

Specimen Processing:Whole blood. Do not process.
Shipping Instructions:Ship same day at room temperature.
Test Performed at or Referral Lab Lab Sendouts  (Quest Diagnostics)
Referral Lab number:16072X


Reference Range:Negative
Use:This DNA sequencing test identifies rare mutations in the 21-hydroxylase gene know to cause congenital adrenal hyperplasia (CAH). It is used when individuals are known or suspected to have 21-OHD mutations undetectable by tests for common CAH mutations (e.g. 14755X/15063X) in order to: 1) confirm or establish a diagnosis of CAH due to 21-OH deficiency, 2) identify genetic carriers of CAH, 3) evaluate the status of persons at risk to be affected by or carriers of CAH due to family history.

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