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CAH (21-Hydroxylase Deficiency) Common Mutations [14755]
MessageFor Specimen Integrity during Extreme Weather see the “Lockbox Usage in Extreme Weather” document at the top of this page.
Test Code
CAH21H
Alias/See Also
14755
CPT Codes
81402
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.
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Other Acceptable Specimens
Whole blood collected in: EDTA (royal blue-top) tube, or ACD solution A-B (yellow-top) tube
Instructions
Store and ship at room temperature immediately. Do not freeze.
Please call 1-866-GENE-INFO (1-866-436-3463) for additional information.
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
Refrigerated: 8 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen • Sodium heparin sample
Methodology
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
Set up: Tues; Report available: 8-15 days
Limitations
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, CA |
33608 Ortega Highway |
San Juan Capistrano, CA 92675-2042 |
Last Updated: November 24, 2021