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Congenital Adrenal Hyperplasia (CAH) (21-Hydroxylase Deficiency) Common Mutations
2013386
Ordering Recommendation

• Not a first-line screening test for CAH.
• Order to confirm the diagnosis of CAH following suggestive biochemical testing.
• Genetic test on fetal samples for prenatal detection of CAH.

Mnemonic
CAH
Methodology
Electrophoresis/Sequencing/Polymerase Chain Reaction
Performed
Varies
Reported
7-14 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), royal blue (EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 5 mL whole blood. (Min: 3 mL) 
Storage/Transport Temperature
Room temperature. Also acceptable: Refrigerated. 
Unacceptable Conditions
Heparinized and frozen specimens. 
Remarks
 
Stability
Ambient: 8 days; Refrigerated: 8 days; Frozen: Unacceptable 
Reference Interval
Interpretive Data


Note
CPT Code(s)
81402
Components
Component Test Code*Component Chart NameLOINC
2013387CAH (21-hydroxylase Deficiency)
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases

Performed at Quest Diagnostics