Baylor Genetics has launched the Neuromuscular Disorders Panel (NGS Panel), a comprehensive offering that analyses 142 extensively studied and actionable genes linked to multiple hereditary neuromuscular disorders.
The disorders include congenital myopathies, limb-girdle muscular dystrophies, distal myopathies and congenital muscular dystrophies.
The panel uses next-generation sequencing (NGS) and runs on an exome backbone. It is designed to facilitate the identification of single nucleotide variants, copy number variants and insertions/deletions.
Baylor Genetics CEO Kengo Takishima said: “We know how daunting the diagnostic odyssey can be and our mission is to make sure no patient with a genetic disorder gets left behind.
“For patients with suspected neuromuscular disorders, our NGS panel is comprehensive yet focused, which may make it preferable over Whole Exome Sequencing in an outpatient setting.”
Baylor Genetics also provides other tests, including Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS).
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WES is utilised to gain insights into the cause of a patient’s symptoms or disease, especially in cases where the presentation is nonspecific and cannot be fully captured by a single panel.
It offers a comprehensive understanding of the genetic makeup of the human body, enabling valuable insights into a wide range of genetic disorders.
On the other hand, WGS provides insights into the entire human genome, including the areas between genes. This analysis can improve the success rate compared to other types of genetic testing, while also enabling informed decisions about future care, family planning and clinical trial eligibility.