Test Overview
Test Methodology

Sanger gene sequencing and multiplex ligation-dependent probe amplification

Test Usage

Carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH) in individuals with a personal or family history of 21-hydroxylase deficiency, or as follow-up to positive CAH newborn screens and/or measurement of basal and adrenocorticotropic hormone- 1-24 stimulated 17-hydroxyprogesterone, androstenedione, and other adrenal steroid levels

Reference Range *

Interpretive report provided

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Details
Days Set Up
Varies
Analytic Time

14 - 21 days

Soft Order Code
CYPZ
Laboratory
Sendout
Reference Laboratory
Mayo CYPZ
Section
Special Testing
Specimen Requirements
Collection Instructions

Collect specimen in an EDTA lav top tube. Send intact as whole blood to Specimen Processing ambient.

Alternate Specimen
Amniotic fluid or CVS. All prenatal specimens must be accompanied by a maternal specimen
Normal Volume
3 mL whole blood
Minimum Volume
1 mL whole blood
Storage Temperature
Ambient preferred, refrigerated acceptable
Additional Information

Test performed by Mayo Clinic Laboratories

Billing
CPT Code
81405, 81402