Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Clinical Use

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

Not provided.

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.

Test Details

New York Approved