Williams-Beuren syndrome
- 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.: GTR000508950.1
- Last updated: 2020-05-12
- Annual Review past due read more
- Test version history
- 508950.1, 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 Williams syndrome
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.Williams-Beuren syndrome
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Pre-implantation genetic diagnosis
Click Indication tab for more information.
Complete requisition form
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.- Cytogenetics
- MFISH-metaphase
- Fluorescent in situ hybridization
- None/not applicable
Establish or confirm diagnosis
- Williams Syndrome - PubMed ID: 20301427
- Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries. - PubMed ID: 22226172
- Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. - PubMed ID: 22412832
- BMC Res Notes. 2012 Jan 9;5:13. doi: 10.1186/1756-0500-5-13.
- https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/books/NBK1249
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.99% sensivity
- [Detection of a Williams Beuren syndrome case by MLPA]. - PubMed ID: 23335707
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.Fluorescent in situ hybridization of 7q11.23 region. Normal controls used at the same time. 000 Complete requisition form
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- Genetic counseling
- Custom Prenatal Testing, Order code: 188116
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.