CAH (21-Hydroxylase Deficiency) Gene Sequencing

Understand what CAH (21-Hydroxylase Deficiency) Gene Sequencing signals

LOINC codes: 30005-3
Commercial laboratory assays: 1

We have not added a physiological summary for this biomarker yet. Compare the commercial laboratory assays and population reference ranges below.

Compare commercial laboratory assays for CAH (21-Hydroxylase Deficiency) Gene Sequencing

Check orderable catalog codes, specimen types, fasting requirements, and demographic reference ranges across laboratories.

CAH (21-Hydroxylase Deficiency) Gene Sequencing

Laboratory: Quest Diagnostics
Test code: 16072
Specimen: Blood
Fasting: Not stated
LOINC: 30005-3
Turnaround: Set up: As needed

Laboratory assay overview

This DNA sequencing test identifies rare variants in the 21-hydroxylase gene known to cause congenital adrenal hyperplasia (CAH). It is used when individuals are known or suspected to have 21-OH pathogenic variants undetectable by tests for common CAH variants (e.g. 14755) 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.

Quest Diagnostics population reference ranges

Quest Diagnostics calculates these statistical intervals for this specific assay and demographic group, not as universal optimal targets.

Population	Range
CYP21A2 Gene	Negative

View complete laboratory reference notes

CYP21A2 Gene Negative

Quest Diagnostics test directory, test code 16072

Verify these ranges and sources

We compile every detail above directly from named laboratory directories and published clinical studies. Laboratories calculate standard reference intervals from the statistical distribution of tested populations for a specific assay method and demographic group, rather than setting universal optimal targets.

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