Method for genetic diagnosis of cardiovascular and neuromuscular diseases by targeted next-generation sequencing

GR1011220BActive Publication Date: 2026-06-19IDRYMA IATROVIOLOGIKON EREVNON TIS AKADIMIAS ATHINON +2
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Patent Information

Application Number
GR20240100876
Authority / Receiving Office
GR · GR
Patent Type
Patents
Current Assignee / Owner
Filing Date
2024-12-12
Publication Date
2026-06-19
Estimated Expiration
2044-12-12
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Abstract

A method is provided for in vitro or ex vivo genetic diagnosis and / or prevention of cardiovascular and neuromuscular diseases which is based on targeted next-generation sequencing. The said method allows simultaneous detection of genetic variations in 415 genes associated with cardiovascular and neuromuscular diseases, achieving a percentage of coverage 99.9% of the bases in the target regions. Also probes and kits suitable for the determination of the sequences of genomic target regions of the respective genes and of the presence of one or more variations in those genes are provided.
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Citation Information

Patent Citations

  • Probe group for detecting pathogenic / susceptible genes of hereditary cardiomyopathy / arrhythmia

    CN109652531A

  • Genetic risk factor screening method and application thereof

    CN114686566A