Stickler Syndrome Gene Sequencing Panel
- 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.: GTR000571068.1
- Last updated: 2022-11-01
- Test version history
- 571068.1, last updated: 2022-11-01
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 Stickler syndrome
Offered by Clinical Biochemical Genetics Diagnostic Laboratory
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Stickler Syndrome Gene Sequencing Panel
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
Order a test:
For specimen requirements and shipping conditions, please check the information page of the desired test(s) located at http://medgen.med.miami.edu/bgdl/test-menu. All specimen tubes should be labeled with the patient’s name and date of birth.
Please fill out the Biochem Lab Requisition Online Form completely (http://medgen.med.miami.edu/bgdl/test-order-form). An incomplete form may delay testing. Include this form with your shipment.
Hours of operation:
Sample Receiving
Monday-Friday: 8 a.m. to 5 p.m. EST
STAT testing available 24/7.
For STAT testing after hours, please page the lab associate
director before sending the sample at (917) 565-5394.
Courier Service:
Clients within the south Florida region may use our courier service provided by Roy’s Delivery Service, Incorporated. Once a client account has been set up with our lab, you will receive our courier account number. To arrange for a sample pick-up, please call (305) 233-8252. You will be asked to give the BGDL account number. Please let the courier know if your sample needs to be refrigerated or frozen on dry ice.
Institutional/Client Billing:
For first time institutional billing, fill out all billing information on the BGDL requisition form and please contact the Medical Genetics Billing Office to obtain a client ID:
Office: (305) 243-6583
Email: Geneticsbillingoffice@med.miami.edu
For non-first time institutional billing, simply enter your client ID and telephone number under the billing section of the BGDL requisition form.
Self pay:
The BGDL accepts checks, money orders, and major credit cards (VISA, Mastercard, Amex). Please contact the Medical Genetics Billing Office for further information: Office: (305) 243-6583
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://medgen.med.miami.edu/bgdl/how-to-order-a-test
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
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Illumina NextSeq 500
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
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.