Hereditary Thrombotic Thrombocytopenic Purpura, ADAMTS13 Gene, Next-Generation Sequencing, Varies

Casandra

Casandra Test Code MC92252Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID GNADMCPT Code 81479

Hereditary Thrombotic Thrombocytopenic Purpura, ADAMTS13 Gene, Next-Generation Sequencing, Varies

Clinical Use

Use

This test is used for evaluating hereditary thrombotic thrombocytopenic purpura (TTP) in patients with a personal or family history suggestive of thrombotic microangiopathy. It assists in confirming a hereditary TTP diagnosis by identifying known or suspected disease-causing alterations in the ADAMTS13 gene. It also helps in determining disease-causing alterations to delineate the underlying molecular defect in a patient with a laboratory diagnosis of hereditary TTP and identifies causative alterations for genetic counseling purposes. Furthermore, it provides prognosis and risk assessment based on genotype-phenotype correlations and offers carrier testing for close family members of an individual with hereditary TTP.

Special Instructions

Specimen should arrive within 96 hours of collection. Previous bone marrow transplant from an allogenic donor will interfere with testing — call 800-533-1710 for instructions for testing such patients. Rare Coagulation Disorder Patient Information form is required to aid in interpretation.

Limitations

Next-generation sequencing may not detect all types of genomic variants. False-negative or false-positive results may occur. There are technical limitations due to regions of homology, high GC content, and repetitive sequences. The test is validated to detect 95% of deletions up to 75 bp and insertions up to 47 bp. Delins of 40 or more bp, including mobile element insertions, may be less reliably detected. This test is not designed to detect low levels of mosaicism or differentiate somatic from germline variants.

Test Details

New York Approved