Diagnostic NGS for Severe Neuromuscular Disorders.
نویسندگان
چکیده
Investigators from the University of Western Australia report the diagnostic yield of performing next generation sequencing (NGS; whole exome and targeted capture of 277 neuromuscular genes) in a heterogenous cohort of patients with neuromuscular disorders (NMD) presenting at or before birth.
منابع مشابه
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
BACKGROUND Neuromuscular disorders are a clinically, pathologically, and genetically heterogeneous group. Even for the experienced clinician, an accurate diagnosis is often challenging due to the complexity of these disorders. Here, we investigated the utility of next generation sequencing (NGS) in early diagnostic algorithms to improve the diagnosis for patients currently lacking precise molec...
متن کاملMolecular diagnosis and next generation gene sequencing in neuromuscular clinical practice
Next generation sequencing (NGS) is revolutionizing the way we do research on genetic disorders. While earlier DNA sequencing was often the last step in disease gene discovery, nowadays it is becoming the starting point. Also, in the diagnostic setting, NGS is gaining momentum and is rapidly being implemented in laboratories around the world. With new developments trending toward more cost effe...
متن کاملA comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.
OBJECTIVE Neuromuscular diseases (NMDs) are a group of >200 highly genetically as well as clinically heterogeneous inherited genetic disorders that affect the peripheral nervous and muscular systems, resulting in gross motor disability. The clinical and genetic heterogeneities of NMDs make disease diagnosis complicated and expensive, often involving multiple tests. METHODS To expedite the mol...
متن کاملApproaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing.
The diagnosis of neuromuscular disorders traditionally involved clinical and neurophysiological assessment, pathological evaluation of muscle and/or nerve biopsy and sequential testing of individual genes. Next generation sequencing (NGS) has revolutionised the diagnostic paradigm in genetic disorders, with the capability to capture and sequence genes, the entire exome (1% of the protein coding...
متن کاملExpanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS
OBJECTIVE To establish and evaluate the effectiveness of a comprehensive next-generation sequencing (NGS) approach to simultaneously analyze all genes known to be responsible for the most clinically and genetically heterogeneous neuromuscular diseases (NMDs) involving spinal motoneurons, neuromuscular junctions, nerves, and muscles. METHODS All coding exons and at least 20 bp of flanking intr...
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عنوان ژورنال:
- Pediatric neurology briefs
دوره 29 11 شماره
صفحات -
تاریخ انتشار 2015