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CAH (21-Hydroxylase Deficiency) Common Mutations
Test Code14755
CPT Codes
81402<br />
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
EDTA (royal blue-top) tube • ACD solution A (yellow-top) tube • ACD solution B (yellow-top) tube
Instructions
Store and ship at room temperature immediately. Do not freeze.
Extracted DNA: Please call 866-GENE-INFO (866-436-3463) for additional information.
Extracted DNA: Please call 866-GENE-INFO (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 FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Tues; Report available: 7-14 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.
Clinical Significance
Confirmation of diagnosis, identification of mutations, evaluation of family members, and follow-up to positive newborn screens.
