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Application of multigene panel testing for bleeding, thrombotic, and platelet disorders in patients and the general

Yaohua Cai1,2, Wenyi Lin1,2, Jun Deng1,2,3

  • 1Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1277 Jiefang Avenue, Wuhan, Hubei , 430022, China.

Molecular Biomedicine
|June 9, 2025
PubMed

Insights

A new gene panel significantly improves diagnosis for rare bleeding, thrombotic, and platelet disorders (BTPDs) in Asian populations. Early genetic screening and broader approaches are crucial for accurate diagnosis and personalized treatment.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Diagnostics

Background:

  • Bleeding, thrombotic, and platelet disorders (BTPDs) are rare, complex conditions with delayed diagnoses due to varied presentations.
  • Current diagnostic methods may not capture all genetic causes of BTPDs.

Purpose of the Study:

  • To develop and evaluate an Expanded Thrombohemostasis (ExTH) gene panel for comprehensive BTPD genetic screening.
  • To assess the diagnostic yield and clinical utility of the ExTH panel in an Asian population.

Main Methods:

  • Developed a 130-gene ExTH panel for diagnostic and risk-associated genes.
  • Applied the panel to 747 patients and 760 controls in the largest genetic screening study for BTPDs in Asia.
  • Analyzed genotype-phenotype correlations and compared genetic findings with conventional assays.

Main Results:

  • Achieved a high overall diagnostic yield of 54.8% for BTPDs.
  • Identified disease-causing variants in unexpected gene categories in 4.28% of patients, indicating genotype-phenotype overlap.
  • Found that mutation carriers had more severe phenotypes, and younger individuals had higher diagnostic rates.
  • Observed pathogenic variants with normal conventional coagulation assay results, highlighting limitations of functional testing.

Conclusions:

  • The ExTH gene panel is a powerful tool for comprehensive BTPD genetic diagnosis, capturing variants missed by conventional methods.
  • Early genetic screening and broad gene panel testing are vital for improving diagnostic accuracy, risk stratification, and personalized treatment of BTPDs.
  • Findings support integrating broad gene panel testing into routine clinical workflows for BTPDs.

Keywords:
Age of onsetCoagulation factorGenetic analysisNext-generation sequencingPathogenic variantsThrombosis

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