Establishing a diagnosis of a neuromuscular disorder associated with known causal genes
Serving as a second-tier test for patients in whom previous targeted gene mutation analyses for specific inherited neuromuscular disorder-related genes were negative
Identifying mutations within genes known to be associated with inherited neuromuscular disorders, allowing for predictive testing of at-risk family members
This test includes the option of performing 1 of several neuromuscular disease-related panels. Options include the following:
Myopathies:
-Myopathy Expanded Panel (141 genes)
-Muscular Dystrophy Panel (77 genes)
-Congenital Myopathy Panel (36 genes)
-Metabolic Myopathy Panel (41 genes)
-Myofibrillar Myopathy Panel (12 genes)
-Distal Myopathy Panel (27 genes)
-Emery-Dreifuss Panel (5 genes)
-Rhabdomyolysis and Myopathy Panel (31 genes)
Distal Myopathy + Peripheral Neuropathy:
-Distal Weakness Expanded Panel (217 genes)
(See below for additional peripheral neuropathy testing options available)
Motor Neuron Disease:
-Motor Neuron Disease Panel (17 genes)
Neuromuscular Junction:
-Congenital Myasthenic Syndromes Panel (25 genes)
Hyperexcitable Muscle Disease:
-Skeletal Muscle Channelopathy Panel (6 genes)
Custom Gene Panel (https://orders.mayocliniclabs.com/en/tools/gene_panels/)
-Custom Gene Ordering tutorial: https://vimeo.com/299737728/23d56922f1
See Frequently Asked Questions: Custom Gene Ordering Tool in Special Instructions.
See Targeted Genes and Methodology Details for Neuromuscular Genetic Panels in Special Instructions for details regarding the targeted genes for each test.
Related Testing:
The following focused hereditary peripheral neuropathy tests are separately available.
-PMPDD / PMP22 Gene, Large Deletion and Duplication Analysis (1 gene)
-PNPAN / Peripheral Neuropathy Expanded Panel by Next-Generation Sequencing (NGS) (103 genes)
-HMSNP / Hereditary Motor and Sensory Neuropathy Panel by Next-Generation Sequencing (NGS) (43 genes)
-HMNP / Hereditary Motor Neuropathy Panel by Next-Generation Sequencing (NGS) (20 genes)
-HSNP / Hereditary Sensory/Autonomic Neuropathy Panel by Next-Generation Sequencing (NGS) (15 genes)
-HSPP / Hereditary Spastic Paraplegia Neuropathy Panel by Next-Generation Sequencing (NGS) (18 genes)
-MSNP / Metabolic/Syndromic Neuropathy Panel by Next-Generation Sequencing (NGS) (19 genes)
This test includes the option for either 1 of several predefined panel tests or the option to create a custom gene panel. Pricing for the Custom Gene Panel will be based on the number of genes selected (1, 2-14, 15-49, 50-100, and 101-500).
The following algorithms are available in Special Instructions:
-Inherited Motor Neuron Disease Testing Algorithm
-Neuromuscular Myopathy Testing Algorithm
