Apert Syndrome - FGFR2 Exon 8
- 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.: GTR000502863.5
- 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 Acrocephalosyndactyly type I
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.Apert Syndrome - FGFR2 Exon 8
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
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
Establish or confirm diagnosis
Reproductive decision-making
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.One of two mutations, S252W or P253R, are found in 98% of individuals with Apert Syndrome.
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
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.