Inpatient and Outpatient Orderable

CAH (21-Hydrolase Deficiency) Gene Seq

Synonyms

CAH (21-HYDROLASE DEFICIENCY) GENE SEQ
CAHSEQ
LAB4189

Cerner Name

CAH (21-Hydroxylase Deficiency) Gene Seq

Clinical Info

This DNA sequencing test identifies rare variants in the 21-hydroxylase gene known to cause congenital adrenal hyperplasia (CAH).

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube: 5 mL whole blood collected in an EDTA (lavender-top) tube ( 3 mL min)

Specimen Volume

5 mL whole blood collected in an EDTA (lavender-top) tube

Transport Instructions

Room Temperature

Specimen Stability

14 Days Room Temperature 14 Days Refrigerated
Unacceptable Frozen

Methodology

Next Generation Sequencing

Days Performed

TAT 3-5 weeks

Performing Laboratory

Quest Diagnostics

CPT

81405
LOINC Code: 30005-3

PDM

255566

Only Orderable at Locations:

Orderable Everywhere

Results

Component Name	Base Name	Common Name	External Name
CAH (21-HYDROLASE DEFICIENCY) GENE SEQ	CAH21HYDRDEF	CAH (21-HYDROLASE DEFICIENCY) GENE SEQ	CAH (21-Hydrolase Deficiency) Gene Seq

Result Interpretation

CYP21A2 Gene Negative

Forms

LAB4189

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