What are Neuromuscular Disorders?
Neuromuscular disease is a broad term used to describe a variety of disorders that impair the functionality of muscles either directly, as pathologies of the voluntary muscle, or indirectly, as pathologies of the nerves or neuromuscular junctions. These rare disorders can result from a variety of genetic abnormalities, including repeat expansions, copy number gain/loss, single-nucleotide changes, and variations in the mitochondrial genome. While some neuromuscular disorders have distinct phenotypes, many patients do not present with symptoms that allow unequivocal diagnosis.
Our Neuromuscular Disease Testing Approach
As a market leader in the diagnosis of rare inherited neurological disorders, MNG is proud to offer a robust portfolio of targeted next-generation sequencing (NGS) panels and molecular diagnostic tests for finding the potential genetic source(s) for neuromuscular disease. While many laboratories in the esoteric testing market offer NGS for common neuromuscular disorders, our philosophy is to combine different test modalities into a single package to provide an answer for your patients. These modalities include mitochondrial sequencing and deletion analysis, repeat expansion testing, and single-exon resolution copy number analysis of the genes in our NGS panels. This approach offers you the latest in genetic diagnostics to provide the answers you need to make a difference in the lives of your patients with neuromuscular conditions.
Neuromuscular Disease Tests We Offer
Our collection of syndrome-specific muscular dystrophy subpanels provides a more focused approach for patients that present with a distinct and well-characterized phenotype. Our portfolio offers a targeted approach to: Congenital Muscular Dystrophies, Limb-Girdle Muscular Dystrophy, and many others. In the case of a negative report, each subpanel in our neuromuscular portfolio can be reflexed to our Comprehensive Muscular Dystrophy/Myopathy panel to improve diagnostic sensitivity.
Our neuromuscular disease offerings also encompass a robust catalog of panels focused on neuropathies, including our Comprehensive Neuropathies panel, which features over 400 genes clinically relevant to neuropathic disease and complimentary mtDNA sequencing. For a targeted approach, MNG Laboratories is proud to offer various options such as Fetal Akinesia, Amyotrophic Lateral Sclerosis, or Charcot Marie Tooth panel. The recently updated Spastic Paraplegia NGS panel, a market leader in the coverage of pathogenic variants, can also be ordered separately.
In addition to the most comprehensive neuromuscular sequencing portfolio on the market, our molecular diagnostic testing further illustrates our mission to provide your patients with a diagnosis. We offer repeat expansion testing for Myotonic Dystrophy Type 1 (DMPK) and Myotonic Dystrophy Type 2 (ZNF9/CNBP) and MLPA testing of the SMN1 and SMN2 genes for diagnosis of Spinal Muscular Atrophy. For Amyotrophic Lateral Sclerosis, we also offer C9orf72 repeat expansion testing that can be ordered with the NGS panel or separately.
MNG Laboratories is committed to a patient-centered testing menu, high-quality diagnostics, and first-in-class reporting driven by our Genome MaNaGer® analysis pipeline. Our customized reporting process helps us stay at the forefront of the evolving genetics field with our regularly-updated NGS panels. Our team-based approach to variant calls ensures we provide actionable results on the pathogenic variants that cause or are likely to cause disease. Our comprehensive approach to diagnostics is accompanied by a team of customer support and scientific personnel available to answer your questions regarding our process, technology, and reports.