CYP21A2 Gene, Full Gene Analysis
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000593004.3
- Last updated: 2023-05-30
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Offered by Mayo Clinic Laboratories
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.CYP21A2 Gene, Full Gene Analysis (CYPZ)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Risk Assessment, Diagnosis
Click Indication tab for more information.
https://www.mayocliniclabs.com/test-catalog/Specimen/37445
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.mayocliniclabs.com/order-tests/index.html
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- Multiplex Ligation-dependent Probe Amplification (MLPA)
- Qiagen LiquiChip (Luminex) 200IS System
- Other
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence Analysis
- Applied Biosystems 3730 capillary sequencing instrument
- Other
Establish or confirm diagnosis
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - PubMed ID: 20301350
- https://www.ncbi.nlm.nih.gov/books/NBK1171
Reproductive decision-making
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - PubMed ID: 20301350
- https://www.ncbi.nlm.nih.gov/books/NBK1171
Predictive risk information for patient and/or family members
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - PubMed ID: 20301350
- https://www.ncbi.nlm.nih.gov/books/NBK1171
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
- ACMG ACT Sheet, 2011American College of Medical Genetics ACT SHEET, Congenital Adrenal Hyperplasia, 2011
- ACMG Algorithm, 2009American College of Medical Genetics Algorithm, Congenital Adrenal Hyperplasia, 2009
- ACMG Algorithm, 2009American College of Medical Genetics and Genomics, Algorithm, Congenital Adrenal Hyperplasia (Elevated 17-OHP), 2009
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