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Test Code
QMCAH
Test Name
CAH Common Mutations
CPT Codes
81402
Expected Turnaround Time
8 - 15 days
Clinical Utility
Confirmation of diagnosis, identification of mutations, evaluation of family members, and follow-up to positive newborn screens.
Specimen and Container Info

Specimen Type: Whole Blood

Collection Container: Lavender Top (EDTA)

Alternate Collection Container: Pale Yellow Top (ACD, Solution A or B) or Royal Blue (EDTA)

Desired Specimen Volume: 5 mL
Collection Instructions
  1. Collect a lavender top (EDTA) tube via venipuncture.
Processing and Submission Instructions
  1. Transport 5 mL of whole blood in the original collection container.
Transport Instructions

Transport to the laboratory refrigerated. 
Stability Requirements

Room Temperature

8 days

Refrigerated

8 days
Causes for Rejection
  • Sodium heparin sample
Methodology
Electrophoresis/Minisequencing/Polymerase Chain Reaction (PCR)
Reference Intervals

See patient reoport.
Alternate Names
  • 21-Hydroxylase Deficiency Mutation
  • CYP21A2 Common Mutations
  • CYP21 Common Mutations
Reference Lab
Quest Diagnostics Nichols Institute
Testing Schedule
Routine, 1 time per week
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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