Hereditary Thrombocytopenia Gene Panel, Next-Generation Sequencing
Use
This test is useful for evaluating hereditary thrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary thrombocytopenia disorder. It aids in diagnosing hereditary thrombocytopenia disorders where phenotypic testing is nondiagnostic, providing confirmation of diagnosis by identifying known or suspected disease-causing alterations in one or more of 36 genes. This assists with genetic counseling, prognosis, risk assessment, and carrier testing for family members.
Special Instructions
The test is not intended for prenatal diagnosis and should be accompanied by Platelet Esoteric Testing Patient Information for a more thorough interpretation. Informed consent is required for New York clients. The test is not designed to evaluate hereditary bleeding disorders.
Limitations
Next-generation sequencing may not detect all genomic variants. Potential for false negatives/positives exists due to technical limitations such as regions of homology and high GC content. Negative results do not rule out thrombocytopenia disorders. Single exon deletions may not be resolved, and genomic complexity may affect resolution. The test does not differentiate between somatic and germline variants and is not designed to detect low levels of mosaicism. Detection limits for deletions up to 75 bp and insertions up to 47 bp are present.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 99970-6
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 59465-5
- 99622-3
- 48767-8
- 85069-3
- 18771-6
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) or Yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Storage Instructions
Ambient (preferred) or refrigerated.