Platelet Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
Use
This test is useful for evaluating hereditary platelet disorders in patients with a personal or family history suggestive of a hereditary platelet disorder. It aids in diagnosing hereditary platelet disorders for patients in whom phenotypic testing is nondiagnostic but there is strong clinical suspicion. The test helps confirm a hereditary platelet disorder diagnosis by identifying known or suspected disease-causing alterations in one or more of 70 genes associated with various hereditary platelet disorders. It also assists in determining disease-causing alterations to delineate the underlying molecular defect in a patient with a diagnosed platelet disorder, and in genetic counseling and prognosis based on genotype-phenotype correlations. This test is not intended for prenatal diagnosis.
Special Instructions
This genetic test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 70 genes associated with hereditary platelet disorders. A platelet esoteric testing patient information form is required. Informed consent is necessary for New York clients. For additional testing guidelines, refer to the British Society for Haematology guidelines. For skin biopsy or cultured fibroblast specimens, an additional charge and time may be required for fibroblast culture before testing.
Limitations
Next-generation sequencing may not detect all genomic variants, and false-negative or false-positive results may occur. There are regions of genes that may not be effectively evaluated due to technical limitations such as high GC content or repetitive sequences. The test is validated for deletions up to 75 bp and insertions up to 47 bp, but may be less reliable for longer variations. The analysis targets single and multi-exon deletions/duplications, but may not achieve single exon resolution in all cases. Low levels of mosaicism and distinction between somatic and germline variants cannot be detected.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 105334-7
- 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)
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 |
| Refrigerated | preferred |