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.1 These rare disorders can result from a variety of genetic abnormalities, including repeat expansions, copy number variations (CNV), 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.
MNG's Neuromuscular Disease Testing Approach
As a market leader in the diagnosis of rare inherited neurological disorders, MNG, a LabCorp Company, offers a robust menu of targeted next-generation sequencing (NGS) panels and molecular diagnostic tests for finding the potential genetic source(s) for neuromuscular disease including 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 the latest in genetic diagnostics to provide the answers needed to make a difference in the lives of those affected by neuromuscular conditions.
Neuromuscular Disease Tests We Offer
For patients presenting with ambiguous symptoms of muscular dystrophy, we offer our Comprehensive Muscular Dystrophy/Myopathy panel. This phenotype-driven panel includes coverage of over 400 genes with clinical relevance to myopathy and muscular dystrophy, single-exon resolution copy number analysis, and complimentary mtDNA sequencing with deletion analysis.
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 the neuromuscular portfolio can be reflexed to the 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, Charcot Marie Tooth, and Spastic Paraplegia panel.
In addition to sequencing assays, MNG offers 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, C9orf72 repeat expansion testing can be ordered with the NGS panel or separately.
- Neuromuscular Disorders. Medline Plus. https://medlineplus.gov/neuromusculardisorders.html. Published December 11, 2018. Accessed September 12, 2019.