CYP21A2 target mutation 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.: GTR000508949.1
- Last updated: 2020-05-12
- Annual Review past due read more
- Test version history
- 508949.1, last updated: 2020-05-12
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 Congenital adrenal hyperplasia
Offered by GENETIX Centro de Investigación en Genética Humana y Reproductiva
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.CYP21A2 target mutation analysis
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Pre-implantation genetic diagnosis, Risk Assessment
Click Indication tab for more information.
Please send the requisition form and informed consent.
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.: http://www.genetix.com.co/
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
- XMutation scanning of select exons
- Bi-directional Sanger Sequence Analysis
- ABI3700XL
- ESequence analysis of select exons
- Bi-directional Sanger Sequence Analysis
- ABI3700XL
Establish or confirm diagnosis
- Cystic Fibrosis - PubMed ID: 20301428
- https://www.ncbi.nlm.nih.gov/books/NBK1250
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Testing strategy
HelpThe lab's suggested sequence of ordering tests based on clinical scenarios. It may include information on: reflex testing including each test component, and scenarios which prompt additional components of testing; whether lab communicates interim results or automatically proceeds to further analyses; and if any components are performed in another laboratory.PCR and bidirectional sequencing, fragment analysys or RFLPs. 000 Please send the requisition form and informed consent.
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- Custom Sequence Analysis
- Genetic counseling
- Preimplantation Genetic Diagnosis (PGD)
- Result interpretation
- Custom Prenatal Testing
- Custom mutation-specific/Carrier testing
- ACMG ACT, 2018American College of Medical Genetics ACT SHEET, Transition to Adult Health Care ACT Sheet, Congenital Adrenal Hyperplasia (CAH)
- ACMG Algorithm, 2009American College of Medical Genetics and Genomics, Algorithm, Congenital Adrenal Hyperplasia (Elevated 17-OHP), 2009
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.