Hereditary Thrombocytopenia Gene Panel, Next-Generation Sequencing

Clinical Use

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

Not provided.

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.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

Mutation (36 genes)

ABCG5ABCG8ACTBACTN1ANKRD26ANO6ARPC1BCDC42CYCSDIAPH1ETV6FLI1FLNAFYB1GATA1GATA2GNEHOXA11IKZF5KDSRMASTLMECOMMPIG6BMPLMYH9ORAI1PLAUPRKACGRBM8ARUNX1SLFN14STIM1THPOTPM4TUBB1WAS