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Service evaluation of R90 bleeding and platelet disorders gene panel in thrombocytopenia cases
G Gurumurthy1, L Reynolds2, M Sutherland3
1University of Manchester, Manchester, UK.
British Journal of Haematology
|December 9, 2024
Summary
The R90 gene panel aids in diagnosing thrombocytopenia, yielding a 46.6% diagnostic rate. Clinical indicators like prolonged thrombocytopenia and family history suggest genetic testing utility.
Area of Science:
- Hematology
- Genetics
- Molecular Diagnostics
Background:
- Thrombocytopenia diagnosis can be challenging, often requiring genetic evaluation.
- Identifying genetic causes is crucial for accurate diagnosis and management of platelet disorders.
Purpose of the Study:
- To evaluate the diagnostic utility of the R90 bleeding and platelet disorders gene panel in patients with thrombocytopenia.
- To identify clinical features associated with genetic variants in thrombocytopenia.
Main Methods:
- Analysis of clinical data and genetic testing results from 88 patients with thrombocytopenia.
- Correlation of clinical features (duration of thrombocytopenia, family history, platelet nadir) with genetic findings.
Main Results:
- The R90 panel achieved a 46.6% diagnostic yield in the studied cohort.
- Thrombocytopenia lasting over 12 months, a positive family history, and a higher platelet count nadir were significantly associated with genetic variants.
Conclusions:
- The R90 gene panel is a valuable tool for diagnosing genetic causes of thrombocytopenia.
- Specific clinical indicators can help refine genetic testing selection for thrombocytopenia patients.
