CAH (21-Hydroxylase Deficiency) Common Mutations

Test Code
CAH (CYP21A2) 14755

Quest Code

CPT Codes

Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume
3 mL

Other Acceptable Specimens
Whole blood collected in: an ACD (yellow-top) tube or EDTA (royal blue-top) tube

Store and ship at room temperature immediately. Do not freeze.
Please call 1-866-GENE-INFO (1-866-436-3463) for additional information.

Transport Temperature
Room temperature

Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen • Sodium heparin sample

Electrophoresis • Minisequencing • Polymerase Chain Reaction (PCR)

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Report Available
7 to 14 Day(s)

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 Range
See Laboratory Report

Clinical Significance
Confirmation of diagnosis, identification of mutations, evaluation of family members, and follow-up to positive newborn screens.

Performing Laboratory
Quest Diagnostics Nichols Institute San Juan Capistrano
33608 Ortega Hwy
San Juan Capistrano, CA 92675-2042

The CPT Codes provided in this document 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 payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.