Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
Use
This test is used for evaluating hereditary thrombosis in patients with a personal or family history suggestive of a hereditary thrombosis disorder. It aids in confirming a hereditary thrombosis disorder diagnosis by identifying known or suspected pathogenic alterations in one or more of 16 genes associated with hereditary thrombosis disorders. The test also helps determine the disease-causing alterations in these genes to delineate the underlying molecular defect in patients with a laboratory diagnosis of a thrombosis disorder. Additionally, it assists in genetic counseling and provides prognosis and risk assessment based on genotype-phenotype correlations. Carrier testing is available for close family members of individuals with a diagnosis of a hereditary thrombosis disorder. This test is not intended for prenatal diagnosis.
Special Instructions
Systematic diagnosis through conventional coagulation testing is recommended prior to considering genetic testing for any suspected thrombosis disorder. Genetic testing for a hereditary thrombosis disorder is indicated if coagulation tests indicate a deficiency or functional abnormality or if there is a clinical suspicion due to family history or atypical presentation. Acquired causes of deficiencies should be excluded. Special coagulation testing should be performed before genetic testing. Patient information is required, although testing may proceed without it. Providers are encouraged to submit this with the specimen. Consents are required for NY State clients. Shipping instructions are provided, and a previous bone marrow transplant from an allogenic donor will interfere with testing.
Limitations
Next-generation sequencing may not detect all types of genomic variants. False negatives or positives may occur due to variable depth of coverage. Some genes have regions that cannot be effectively evaluated due to technical limitations such as high GC content or repetitive sequences. This test targets single and multi-exon deletions or duplications; however, balanced structural rearrangements may not be detected. Single exon resolution cannot always be achieved. Results may not differentiate between somatic and germline variants. Detected deletions-insertions and coverage limitations will be noted in the report. Results from patients with an allogeneic hematopoietic stem cell transplant or recent blood transfusion may be inaccurate due to donor DNA.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 105336-2
- 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), 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.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |