CAH (21-Hydroxylase Deficiency) Gene Sequencing

Abbrev Code:XMISC   
Order Code:LAB4909Order Name:Laboratory Miscellaneous Order
Synonyms:CYP21A2 Gene
Methodology:Next Generation 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), Yellow (ACD, Solution B) tube available from laboratory
Causes for Rejection:Frozen and moderate or grossly hemolyzed specimens.

Processing and Shipping

Specimen Processing:Whole blood. Do not process.
Shipping Instructions:Ship same day at room temperature.
Stability:14 days at room temperature or refrigerated.
Test Performed at or Referral Lab Lab Sendouts  (Quest Diagnostics)
Referral Lab number:16072


Reference Range:Negative
Use:This DNA sequencing test identifies rare mutations in the 21-hydroxylase gene known 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. 14755 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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