Neuromuscular Disorders: Understanding the Link Between Nerves and Muscle Neuromuscular disorders are a diverse group of conditions that disrupt communication between nerves and muscles, leading to progressive muscle weakness, fatigue, pain, and impaired movement. These disorders affect the muscles, peripheral nervous system, and the pathways that control muscle function. Symptoms can appear anytime from infancy to adulthood and may include difficulty swallowing, balance issues, and loss of muscle tone. Diagnosis relies on advanced techniques such as genetic testing, electromyography, muscle biopsy, and biochemical analysis.
Genetic testing is revolutionizing the diagnosis and treatment of neuromuscular disorders, enabling precise identification of conditions that were once difficult to diagnose based on symptoms alone. From early-onset spinal muscular atrophy where targeted therapies now offer hope to hereditary polyneuropathies and other genetically complex disorders, advanced genetic diagnostics provide clarity in the face of heterogeneity. By uncovering the root cause, genetic insights guide personalized treatment strategies and improve patient outcomes. The Genes2Me Neuromuscular NGS Assay Panel targets key genes linked to a wide spectrum of hereditary conditions including muscular dystrophies, inherited myopathies, spinal muscular atrophies, and more. By delivering accurate genetic insights, this panel empowers healthcare providers to validate clinical diagnoses, anticipate disease outcomes, optimize treatment strategies, and offer informed genetic counselling for families.
| Product highlights & key features | |
|---|---|
| Comprehensive Genetic Coverage: Targets 497 clinically relevant genes across the whole coding sequence (1.4 Mb) for complete analysis. | |
| Advanced Mutation Detection: Accurately identifies SNVs, InDels, and CNVs using hybridization based NGS with high sensitivity and specificity. | |
| Shortens the Diagnostic Odyssey: Provides a conclusive molecular diagnosis for genetically heterogeneous neuromuscular conditions, reducing invasive and costly investigations. | |
| Supports Personalized Care: Enables prognosis prediction, early symptom detection, informed family planning, and clinical trial enrollment. | |
| Fast & Convenient: Quick turnaround time with a simple blood sample for minimally invasive testing. | |
| Features | Performance |
|---|---|
| Coverage uniformity (0.2X) | >99% |
| Reproducibility (%) | 97.3 |
| Sensitivity (%) | 96.5 |
| On Target Ratio (%) | >78 |
| Number of Genes: | 497 |
| Gene count/family: | ~293 |
| Target Size: | 1.4 Mb |
| Covered Regions: | Whole CDS |
| Mutation Types: | SNV / InDels / CNV |
| Sample Type: | Blood |
| Platform Compatibility: | Illumina, MGI, Thermo Fisher, Element Biosciences |
| Commercial Name | Cat No. | Pack Size | Platform |
|---|---|---|---|
| Neuromuscular NGS Test Kit | G710024-1 | 24 T | Illumina |
| G710024-2 | 96 T | Illumina | |
| G710024-3 | 96 T – EZY | Illumina – EZY | |
| Neuromuscular NGS Test Kit | G710024-4 | 24 T | MGI |
| G710024-5 | 96 T | MGI | |
| G710024-6 | 96 T – EZY | MGI – EZY | |
| Neuromuscular NGS Test Kit | G710024-7 | 24 T | Aviti |
| G710024-8 | 96 T | Aviti | |
| G710024-9 | 96 T – EZY | Aviti – EZY | |
| Neuromuscular NGS Test Kit | G710024-10 | 24 T | Thermo |
| G710024-11 | 96 T | Thermo | |
| G710024-12 | 96 T – EZY | Thermo – EZY |
Uniform Gene Coverage Across Lymphoma Samples:
Coverage analysis of key lymphoma associated genes (ALK, BRAF, ATM, and JAK3) demonstrates strong concordance between mean depth and median coverage, indicating minimal bias and uniform sequencing across target regions. This convergence reflects a robust and reliable assay validated across multiple lymphoma specimens.
On-target ratio across lymphoma patient samples:
All patient samples achieved more than 80% on-target alignment, reflecting the panel’s exceptional design precision, optimized assay performance, and highly efficient target capture ensuring reliable, high-quality sequencing efficiency.
Bioanalyzer profile of the targeted sequencing library derived from the Seraseq Lymphoma DNA Mutation Mix. The validated workflow demonstrates consistent library size (~350 bp) and concentration (20–40 nM), indicative of robust preparation for NGS analysis.
Critical Gene Mutation Patterns in Lymphoma:
The Oncoplot shows the somatic mutation landscape of the top 18 lymphoma associated genes. Missense variants (blue) dominate, while multi-hit events (green) indicate multiple mutation types within the same gene. The right panel shows mutation frequency per gene.
Comparative VAF Profiles Across High Priority Genes:
Variant Allele Frequency (VAF) distribution across the top 18 lymphoma associated genes. Boxplots illustrate variability in VAF for each gene, with ALK, TP53, and WNK1 showing the highest ranges, indicating heterogeneity in mutation burden across samples.
Lollipop Visualization of Mutation Hotspots in ALK and ATM:
The plots showing somatic mutation distribution in (A) ALK (mutation rate: 33.33%) and (B) ATM (mutation rate: 42.86%) genes. Missense mutations (green), frameshift insertions (purple), and frameshift deletions (orange) are mapped across functional domains.
Download useful documents and technical information for the neuromuscluar NGS Assays.
Since its inception in 2016, Genes2me has been constantly striving towards setting a benchmark in the diagnostics space by introducing premium quality (Made in India) diagnostic kits which are CE-IVD, ISO-13485:2016, and ISO 9001:2015 certified, assuring our clients of unparalleled quality and compliance with international standards.
All products listed in the catalogue are the products of Genes2Me Private Limited. Apart from that, all other product names, trademarks and logos wherever used in the catalogue are the property of their respective owners.
© 2025 Genes2me. All rights reserved.
