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CAH (21-Hydroxylase Deficiency) Common Mutations
Test Code14755
CPT Codes
81402<br />
Physician Attestation of Informed Consent
This genetic test requires provider confirmation that patient informed consent has been received if the ordering provider is located in AK, AZ, DE, FL, GA, IA, MA, MN, MT, NV, NH, NJ, NY, OR, SC, SD, or VT or testing is performed in MA.
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Other Acceptable Specimens
EDTA (royal blue-top) tube • ACD solution A (yellow-top) tube • ACD solution B (yellow-top) tube
Instructions
Store and ship at room temperature immediately. Do not freeze.
Extracted DNA: Please call 866-GENE-INFO (866-436-3463) for additional information.
Extracted DNA: Please call 866-GENE-INFO (866-436-3463) for additional information.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Refrigerated: 8 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen • Sodium heparin sample
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 FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Tues; Report available: 7-14 days
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.
Clinical Significance
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.
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.
Performing Laboratory
Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano, CA 92690-6130
Last Updated: November 6, 2024
