CAH (21-Hydroxylase Deficiency) Common Mutations - LG4650


Sunquest Code:ARMISC  
Epic Code:LAB4909Epic Name:Send Outs Misc Test
Synonyms:CYP21A2 Common Mutation Panel
Methodology:Polymerase chain reaction, Electrophoresis
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 7-14 days.
Special Instructions:A signed informed consent in the patient's medical record is required; the consent form should not be sent to the laboratory. See Associated Links.
Compliance:

This test was developed and its performance characteristics determined by Quest Diagnostics Nichols Institute, San Juan Capistrano. Performance characteristics refer to the analytical performance of this test.

Associated Links:

Genetic Testing Consent Form



Collection Instructions

Specimen:Blood
Optimal Volume:5 mL
Minimum\Peds Volume:3 mL
Container:Purple (EDTA) (Yellow (ACD, Solution A) tube available from laboratory)
Causes for Rejection:Heparinized or frozen specimens.


Processing and Shipping

Specimen Processing:Whole blood. Do not process.
Shipping Instructions:Ship same day at room temperature.
Test Performed at or Referral Lab Lab Sendouts  (Quest Diagnostics via ARUP)
Referral Lab number:2013386


Interpretive

Reference Range:By report.
Use:Order to confirm the diagnosis of CAH following suggestive biochemical testing.


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