Craniodysmorphology Panel (FGFR1,2,3,TWIST)
- 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.: GTR000504103.4
- Last updated: 2021-10-14
- Annual Review past due read more
- 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 Crouzon syndrome
Offered by Center for Genetics at Saint Francis
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Craniodysmorphology Panel (FGFR1,2,3,TWIST) (FGFR1,2,3, TWIST)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
1. Choose the desired test from the Test Directory.
2. Obtain information on the required specimen for the specific test from the Test Information page.
3. Fill out the necessary test requisition form and any other required forms from the Forms page.
4. Provide the required Billing information or make the required payment arrangements.
5. Submit the sample according to the Specimen Handling instructions.
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.saintfrancis.com/genetics/Pages/Test-Ordering.aspx
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
- ESequence analysis of select exons
- Bi-directional Sanger Sequence Analysis
- Applied Biosystems 3130 Capillary Sequencing Instrument
- TTargeted variant analysis
- SNP Detection
- Restriction enzyme digestion and electrophoresis
Establish or confirm diagnosis
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Incidence of mutations in the FGFR2 gene (exons 8 and 10) in Craniodysmorphology syndromes is 80%.
Citations
Not provided
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