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Test Name

CAH (21-Hydroxylase Deficiency) Rare Mutations

CPT Code(s)

81405

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.

Clinical Significance

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.

Methodology

DNA Sequencing • Polymerase Chain Reaction (PCR)

Limitations

The CAH rare mutation analysis test will NOT detect the common 390 kb deletion allele or any other deletion or recombination allele.  DNA analysis can predict the occurrence of CAH but cannot predict the severity of the condition.  Polymorphisms or other benign changes in a person’s DNA may prevent accurate genotyping.  CYP21A2 genotypes can be complex and analysis of first degree relatives may be required to fully understand the haplotype or pattern of markers on an individual chromosome.

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)

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.

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CAH (21-Hydroxylase Deficiency) Rare Mutations
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