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Test Directory CAH (21-Hydroxylase Deficiency) Common Mutations

CAH (21-Hydroxylase Deficiency) Common Mutations

Order Code: CAH21H

Test Summary

CAH (21-Hydroxylase Deficiency) Common Mutations - This test detects the presence or absence of 11 common mutations in the CYP21A2 gene associated with 21-hydroxylase deficient congenital adrenal hyperplasia (CAH). Results can be used to confirm a clinical diagnosis, identify carriers, and evaluate family members. The common mutations included in this panel are: c.92C>T (p.Pro31Leu, P30L); c.293-13C>G (Intron 2G); c.332_339del8 (p.Gly111Valfs*21,G110del8nt); c.518T>A (p.lle1737Asn, I172N); the Exon 6 Cluster (c.710T>A (p.lle237Asn, I236N), c.713T>A (p.Val238Glu, V237E), and c.719T>A (p.Met240Lys, M239K)); c.844G>T (p.Val282Leu, V281L), c.923dupT (p.Leu 308Phefs*6, F306+T); c.955C>T (p.Gln319*, Q318X); c.1069C>T (p.Arg357Trp, R356W); c.1360C>T (p.Pro454Ser, P453S); and CYP21A2*7 (30 kb deletion). Please note that the description/nomenclature of these mutations may vary from laboratory to laboratory. For fetal testing of parental mutations on this panel, see CAH common mutations, fetal cells. For full gene sequencing of CYP21A2, see CAH (21-Hydroxylase Deficiency), Gene Sequencing. Please call GeneInfo at 866-436-3463 to speak to a Quest genetic counselor for assistance or questions.

Aliases

21-Hydroxylase Deficiency Mutation
CYP21 Common Mutations
CYP21A2 Common Mutations

Specimen Collection

Special Instructions

See CAH21H form

Preferred Specimen

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

Minimum Volume

3 mL

Instructions

Store and ship at room temperature immediately. Do not freeze.
Please call 1-866-GENE-INFO (1-866-436-3463) for additional information.

Patient Preparation

N/A

Storage

N/A

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

Limitations

This assay cannot detect mutations other than the 11 mutations tested for and this assay cannot detect deletions larger than, or of a size other than, the 30 kb deletion.

Other Acceptable Specimens

Whole blood collected in: EDTA (royal blue-top) tube, or ACD solution A-B (yellow-top) tube

Unacceptable Specimens

Received frozen • Sodium heparin sample

Order Code

CAH21H

EPIC (Premier) Code

LAB3192

Includes

N/A

CPT Code

81402

Billing Code

670616

CPT Statement

Methodology

Electrophoresis • Minisequencing • Polymerase Chain Reaction (PCR)

FDA Status

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Testing Laboratory

Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano CA, 92675

Department

Reference Testing

Reference Range

See Laboratory Report

Setup Schedule / Expected Turnaround Time

Tuesday; Report available: 8 - 15 days

Resources

CAH21H Form