Test Catalog

Test ID: NMPAN    
Neuromuscular Genetic Panels by Next-Generation Sequencing (NGS)

Useful For Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.mayomedicallaboratories.com/en/tools/gene_panels)

-Custom Gene Ordering tutorial: https://vimeo.com/299737728/23d56922f1

See Frequently Asked Questions: Custom Gene Ordering Tool in Special Instrictions.

 

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)

Highlights

 

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
_G090Motor Neuron Disease PanelNo, (Bill Only)No
_G091Muscular Dystrophy PanelNo, (Bill Only)No
_G092Myofibrillar Myopathy PanelNo, (Bill Only)No
_G093Congenital Myopathy PanelNo, (Bill Only)No
_G094Congenital Myasthenic SyndromesNo, (Bill Only)No
_G095Metabolic Myopathy PanelNo, (Bill Only)No
_G096Emery-Dreifuss PanelNo, (Bill Only)No
_G097Distal Myopathy PanelNo, (Bill Only)No
_G098Skeletal Muscle Channelopathy PanelNo, (Bill Only)No
_G099Myopathy Expanded PanelNo, (Bill Only)No
_G100Distal Weakness Expanded PanelNo, (Bill Only)No
_G101Rhabdomyolysis and Myopathy PanelNo, (Bill Only)No
G145Hereditary Custom Gene Panel Tier 1No, (Bill Only)No
G146Hereditary Custom Gene Panel Tier 2No, (Bill Only)No
G147Hereditary Custom Gene Panel Tier 3No, (Bill Only)No
G148Hereditary Custom Gene Panel Tier 4No, (Bill Only)No
G149Hereditary Custom Gene Panel Tier 5No, (Bill Only)No

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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, 2-10, 11-49, 50-100, and 101-500).

 

See Inherited Motor Neuron Disease Testing Algorithm in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

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)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Neuromuscular Genetic Panels

Aliases Lists additional common names for a test, as an aid in searching

Alpha-B crystalline-mutated distal myopathy
ALS
Amyotrophic Lateral Sclerosis
Anderson-Tawil syndrome
Becker muscular dystrophy
Cap myopathy
Central core myopathy
Centronuclear myopathy
Channelopathy-associated insensitivity to pain
Charcot-Marie-Tooth disease type 1A
Charcot Marie Tooth
CMT1A
CMD
Congenital fiber-type disproportion myopathy
Congenital muscular dystrophy
Congenital myasthenic syndrome
Congenital myopathy
Desminopathy
Distal ABD-filaminopathy
Distal anoctaminopathy
Distal myopathy with rimmed vacuoles
Distal myotilinopathy
Distal nebulin myopathy
Distal weakness
Duchenne Muscular Dystrophy
Dystrophinopathies
Dystrophinopathy
EDMD
Emery-Drifuss muscular dystrophy
Hereditary neuralgic amyotrophy
HNA
Hyaline body myopathy
Hyperkalaemic periodic paralysis
Hypokalaemic periodic paralysis
Laing distal myopathy
LGMD
Limb-girdle muscular dystrophy
Markesbery-Griggs
Matrin3 distal myopathy
Metabolic myopathy
Miyoshi myopathy
Motor Neuron Disease
Muscular Dystrophies
Muscular Dystrophy
Myofibrillar Myopathy
Myotonia congenital
Nemaline myopathy
Nondystrophic myotonias
Paramyotonia congenital
Paroxysmal extreme pain disorder
Period paralyses
Period paralysis
PLS
PMA
Primary erythermalgia
Primary lateral sclerosis
Primary Muscular Atrophy
Rhabdomyolysis
Sodium channel myotonia
Tibial muscular dystrophy
Udd myopathy
VCP-mutated distal myopathy
Welander distal myopathy
ZASPopathy
Next Gen Sequencing Test
Custom Gene Ordering
Custom Gene Panel
Custom NGS Panel
Custom ordering
Custom Panels
Custom Sequencing Panels
Custom sequencing test
Customizable Epilepsy Panels
Customizable Hereditary Panels
Customizable Panels
A la carte