Platelet Function Defect Gene Panel, Next-Generation Sequencing, Varies
Use
This test is useful for diagnosing hereditary platelet function defect disorders, confirming a diagnosis by identifying disease-causing alterations in one or more of 17 genes, determining molecular defects in patients with platelet function disorders, and providing genetic counseling information. It helps delineate molecular defects in patients with hereditary platelet function defects, offers prognosis information based on genotype-phenotype correlations, and allows carrier testing for family members. It is not intended for prenatal diagnosis.
Special Instructions
Ordering providers are strongly encouraged to fill out the required 'Platelet Esoteric Testing Patient Information' form and send it with the specimen. Specimen should arrive within 96 hours of collection. A previous bone marrow transplant from an allogenic donor will interfere with testing. Best container is a lavender top (EDTA) tube; yellow top (ACD) is acceptable. Ship specimens at ambient temperature within the stability period.
Limitations
Next-generation sequencing may not detect all genomic variants. False-negative or false-positive results are possible. Some gene regions are not effectively evaluated due to assay limitations. This test is not designed to evaluate hereditary bleeding disorders or detect low levels of mosaicism. Variants are classified according to standard guidelines, but in silico tool predictions and variant reclassification may change over time. Test results should be analyzed in conjunction with clinical findings, family history, and other laboratory data for accurate interpretation.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 105333-9
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 59465-5
- 99622-3
- 48767-8
- 85069-3
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) preferred, Yellow top (ACD) acceptable
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Storage Instructions
Ambient preferred, refrigerated is acceptable.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |