Web: | mayocliniclabs.com |
---|---|
Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
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/Duplication Analysis, Varies (1 gene)
-NPPAN / Peripheral Neuropathy Genetic Panels by Next-Generation Sequencing (NGS), Blood
--Hereditary Motor Neuropathy Panel (23 genes)
--Hereditary Sensory Neuropathy Panel (18 genes)
--Metabolic or Syndromic Neuropathies (74 genes)
--Motor and Sensory Neuropathy Panel (82 genes)
--Peripheral Neuropathy Expanded Panel (193 genes)
--Spastic Paraplegia Neuropathy Panel (41 genes)
--SEPT9 Gene, Full Gene Analysis (1 gene)
--Custom Gene Panel
Test ID | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
_G090 | Motor Neuron Disease Panel | No, (Bill Only) | No |
_G091 | Muscular Dystrophy Panel | No, (Bill Only) | No |
_G092 | Myofibrillar Myopathy Panel | No, (Bill Only) | No |
_G093 | Congenital Myopathy Panel | No, (Bill Only) | No |
_G094 | Congenital Myasthenic Syndromes | No, (Bill Only) | No |
_G095 | Metabolic Myopathy Panel | No, (Bill Only) | No |
_G096 | Emery-Dreifuss Panel | No, (Bill Only) | No |
_G097 | Distal Myopathy Panel | No, (Bill Only) | No |
_G098 | Skeletal Muscle Channelopathy Panel | No, (Bill Only) | No |
_G099 | Myopathy Expanded Panel | No, (Bill Only) | No |
_G100 | Distal Weakness Expanded Panel | No, (Bill Only) | No |
_G101 | Rhabdomyolysis and Myopathy Panel | No, (Bill Only) | No |
G145 | Hereditary Custom Gene Panel Tier 1 | No, (Bill Only) | No |
G146 | Hereditary Custom Gene Panel Tier 2 | No, (Bill Only) | No |
G147 | Hereditary Custom Gene Panel Tier 3 | No, (Bill Only) | No |
G148 | Hereditary Custom Gene Panel Tier 4 | No, (Bill Only) | No |
G149 | Hereditary Custom Gene Panel Tier 5 | No, (Bill Only) | No |
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:
Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR)/qPCR, Sanger Sequencing/or Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)