NGS Expands the Genetic Landscape of Inherited Thrombocytopenias to Over 40 Genes
This review summarizes how next-generation sequencing has dramatically expanded the catalog of inherited thrombocytopenia syndromes, with over 40 implicated genes now identified through collaborative international efforts. The authors discuss validation strategies for novel genetic discoveries and the clinician's role in securing a germline genetic diagnosis. For diagnostic laboratories, the article underscores that comprehensive NGS gene panels have replaced single-gene testing as the standard approach for thrombocytopenia workup.
The original study
Genetics of inherited thrombocytopenias.
- Authors
- Warren JT, Di Paola J
- Journal
- Blood
- Type
- Journal Article, Review
- PMID
- 35167650
Original abstract
The inherited thrombocytopenia syndromes are a group of disorders characterized primarily by quantitative defects in platelet number, though with a variety demonstrating qualitative defects and/or extrahematopoietic findings. Through collaborative international efforts applying next-generation sequencing approaches, the list of genetic syndromes that cause thrombocytopenia has expanded significantly in recent years, now with over 40 genes implicated. In this review, we focus on what is known about the genetic etiology of inherited thrombocytopenia syndromes and how the field has worked to validate new genetic discoveries. We highlight the important role for the clinician in identifying a germline genetic diagnosis and strategies for identifying novel causes through research-based endeavors.