CAH (21-Hydroxylase Deficiency) Gene Seq CAHSEQ

Synonyms

Allscripts (AEHR) Order Name

CAH (21-Hydrolase Deficiency) Gene Seq

Sunrise Clinical Manager (SCM) Order Name

CAH (21-Hydrolase Deficiency) Gene Seq

EPIC Order Name

CAH (21-Hydrolase 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 Type

Blood

Specimen Volume

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

Container

Lavender Top Tube

Collection Instructions

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

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

Result Interpretation

Forms