PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT)
- 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.: GTR000592981.3
- Last updated: 2023-06-29
- 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 SCOTT SYNDROME
Offered by Machaon Diagnostics
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
Please visit lab website for details. Inquire about functional confirmation testing.
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.: https://www.machaondiagnostics.com/test/plateletgenex-functional-defect-panel/
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)
Establish or confirm diagnosis
- Hereditary thrombocytopenias: a growing list of disorders. - PubMed ID: 29222283
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.We acquired six positive control samples by searching the cell line biorepository at the Coriell Institute for Medical Research. These six samples were collected from patients diagnosed with either Hermansky-Pudlak, Chediak-Higashi, or Bernard-Soulier syndromes. In all six cases, we identified either pathogenic or likely pathogenic variants, suggesting the clinical specificity might be high, at least for these three syndromes. This test covers >97% of exonic regions (plus flanking intronic DNA) for the 31 genes.
Citations
Not provided
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Custom Sequence Analysis
- Result interpretation
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.