CAH (21-Hydroxylase Deficiency) Rare Mutations - LG4651


Sunquest Code:LSMISC  
Epic Code:LAB4909Epic Name:Send Outs Misc Test
Synonyms:CYP21A2 Rare Mutations
Methodology:Polymerase chain reaction; DNA sequencing
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 3-4 weeks.
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) (Green (sodium heparin, no gel))
Causes for Rejection:Frozen specimens or samples greater than 8 days old at time of testing.


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)
Referral Lab number:16072X


Interpretive

Reference Range:Negative
Use:This DNA sequencing test identifies rare mutations in the 21-hydroxylase gene know to cause congenital adrenal hyperplasia (CAH). It is used when individuals are known or suspected to have 21-OHD mutations undetectable by tests for common CAH mutations (e.g. 14755X/15063X) in order to: 1) confirm or establish a diagnosis of CAH due to 21-OH deficiency, 2) identify genetic carriers of CAH, 3) evaluate the status of persons at risk to be affected by or carriers of CAH due to family history.


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