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CAH (21-Hydroxylase Deficiency) Common Mutations
To view specimen requirements and codes please Select a regional laboratory.Not sure which laboratory serves your office? Call us 866-MYQUEST (866-697-8378)
**IMPORTANT: CPT Code is informational only; obtain the Test Code for ordering.
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
This test identifies mutations in the 21-hydroxylase gene known to cause congenital adrenal hyperplasia (CAH). It is used 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.
Electrophoresis • Minisequencing • Polymerase Chain Reaction (PCR)
This assay cannot detect mutations other than the 11 mutations tested for and this assay cannot detect deletions larger than, or of a size other than, the 30 kb deletion.
Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
* The tests listed by specialist are a select group of tests offered. For a complete list of Quest Diagnostics tests, please refer to our Directory of Services.