The role of genetic sequencing in the diagnostic workup for chronic immune thrombocytopenia.

ABSTRACT:

Abstract

Immune thrombocytopenia (ITP) is a heterogenous autoimmune disorder diagnosed by excluding other conditions. Misdiagnosis of primary ITP occurs in patients with inherited thrombocytopenia and primary immunodeficiency syndromes. This study investigates whether genetic testing for inherited thrombocytopenia or primary immunodeficiency can enhance diagnostic accuracy in ITP, and guide treatment strategies. We performed whole genome sequencing or targeted panel sequencing on peripheral blood samples in a cohort of 80 participants with chronic ITP, utilizing the ThromboGenomics panel (n = 72) and the Genomics of Rare Immune Disorders panel (n = 50) consisting of genes known to cause bleeding and platelet disorders (BPDG) or primary immuodeficiency genes (PIDG) respectively. A r

SUBMITTER: Joshi N 

PROVIDER: S-EPMC11985033 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature