Platelet Storage Pool Deficiency Gene Panel, Next-Generation Sequencing, Varies
Use
This test is useful for evaluating hereditary platelet storage pool deficiencies in patients with a personal or family history suggestive of the disorder. It aids in diagnosing these deficiencies when phenotypic testing is nondiagnostic, confirming diagnoses by identifying known or suspected alterations in one or more of 24 associated genes. It also helps determine disease-causing variations to understand the molecular defect in diagnosed patients, informs genetic counseling, and provides prognosis and risk assessments based on genotype-phenotype correlations. Carrier testing for close family members is also supported.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all genomic variants, and there can be false-negative or false-positive results. Certain gene regions may not be effectively evaluated due to technical limitations, including homology, high guanine-cytosine content, and repetitive sequences. Negative results do not rule out genetic disorders, and single exon resolution in deletion/duplication analysis might not be achieved due to genomic complexity. The test does not detect low levels of mosaicism, and additional tests may be necessary if variants are somatic.
New York Approved
Methodology
NGS
Biomarkers
LOINC Codes
- 105335-4 - Hered plat pool def multi analy Bld
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 18771-6 - Provider signing name
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); Acceptable: Yellow top (ACD)
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.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |