Genetic Platelet Disorders Panel
Also known as: Bernard-Soulier Syndrome, Hereditary Platelet Dysfunction, Glanzmann's Thrombasthenia
Use
Diagnostic testing
Special Instructions
For oral swab specimens, follow kit instructions for optimal collection. Contact MNG Genetic Services for specific requirements regarding extracted DNA specimens. It is crucial to maintain specimens at room temperature or refrigerate them at 4°C; do not freeze.
Limitations
This assay may not consistently detect mosaicism and does not identify large chromosomal aberrations such as rearrangements and inversions that do not alter copy number. The test does not detect repeat expansions. False positives or negatives may result from insufficient variant insight, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplants, mislabeled samples, or incorrect family relationship assumptions. Assay limitations include potential errors with low heteroplasmy levels, and clinical significance interpretations may evolve with new variant information.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51969-4
- 50397-9
- 8251-1
- 80563-0
Result Turnaround Time
20-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |