Whole Exome Sequencing
- 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.: GTR000595969.1
- Last updated: 2021-09-11
- Test version history
- 595969.1, last updated: 2021-09-11
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 Cardiofacioneurodevelopmental syndrome
Offered by Genetics and Genomic Medicine Centre
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Whole Exome Sequencing (WES)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
Upon physician/health care providers recommendation Patient have to come to Neurogen or relevant sample can be sent to Neurogen through FeDex, DHL or other suitable means along with the copy of test recommendation. Patient/ parent have to fill out the patient information form and sign consent form. If the patient is from out of state or from abroad then they have to provide contact information along with sample. Then the patient information form and consent form will be mailed to their address which they have fill out, sign and again send back to us either hard copy or the signed scanned copy. In case of out of state or abroad patient payment should be done through credit card.
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.neurogenbd.com/
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
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- NovaSeq 6000
- Twist Human Core Exome Sequencing
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
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 mutation-specific/Carrier testing
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.