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.
Compliance:

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

Specimen:Blood
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


Interpretive

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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