Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.

ABSTRACT:

Introduction

Inherited coagulation factor deficiencies (ICFD) result from plasma protein deficiencies, impacting blood coagulation cascade and leading to haemorrhagic diathesis. Advancements in next-generation sequencing (NGS) technology have enabled high-throughput methods for molecular ICFD diagnosis. However, detailed descriptions of clinical applications and routine laboratory experiences in this field remain scarce.

Aim

This study presents the results from a real-world experience using an NGS-based gene panel for routine molecular diagnosis, applied to more than 500 ICFD patients in Spain.

Methods

A custom NGS gene panel targeting 22 ICFD-related genes was validated using 20 patients with known variants. Subsequently, the panel was applied to 515 ICFD patients fr

SUBMITTER: Borras N 

PROVIDER: S-EPMC12306924 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature