Overview
Neuromuscular Disorders Sequencing Panel
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
241 conditions tested. Click Indication tab for more information.
- Duchenne muscular dystrophy (DMD)
- Alpha-B crystallinopathy (MFM2)
- Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (FTDALS6)
- Amyotrophic lateral sclerosis 21 (ALS21)
- Amyotrophic lateral sclerosis type 11 (ALS11)
- Amyotrophic lateral sclerosis type 4 (ALS4)
- Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1)
- Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 (PEOA2)
- Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 (PEOA3)
- Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 (PEOA4)
- Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 (PEOA5)
- Autosomal recessive axonal neuropathy with neuromyotonia (NMAN)
- Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B), lab preferred: Limb-girdle muscular dystrophy, type 2B (LGMDR2)
- Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D), lab preferred: Limb-girdle muscular dystrophy, type 2D (LGMDR3)
- Autosomal recessive limb-girdle muscular dystrophy type 2E (LGMD2E), lab preferred: Limb-girdle muscular dystrophy, type 2E (LGMDR4)
- Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F), lab preferred: Limb-girdle muscular dystrophy, type 2F (LGMDR6)
- Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G), lab preferred: Limb-girdle muscular dystrophy, type 2G (LGMDR7)
- Autosomal recessive multiple pterygium syndrome, lab preferred: Multiple pterygium syndrome Escobar type
- Bailey-Bloch congenital myopathy (MYPBB), lab preferred: Native American myopathy
- Becker muscular dystrophy (BMD)
- Bethlem myopathy 1 (BTHLM1)
- Bethlem myopathy 2 (BTHLM2)
- Brody myopathy
- Cap myopathy 1 (CAPM1)
- Cap myopathy 2 (CAPM2)
- Central core myopathy (CCD), lab preferred: Myopathy, Central Core
- Centronuclear myopathy (CNM), lab preferred: Myotubular myopathy
- Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN)
- Charcot-Marie-Tooth disease axonal type 2C (HMSN2C), lab preferred: Charcot-Marie-Tooth disease type 2C
- Charcot-Marie-Tooth disease axonal type 2F (CMT2F), lab preferred: Charcot-Marie-Tooth disease type 2F
- Charcot-Marie-Tooth disease type 2B1 (CMT2B1)
- Charcot-Marie-Tooth disease type 2D (CMT2D)
- Charcot-Marie-Tooth disease, axonal, type 2O (CMT2O)
- Charcot-Marie-Tooth disease, axonal, type 2S (CMT2S)
- Charcot-Marie-Tooth disease, axonal, type 2y (CMT2Y)
- Charcot-Marie-Tooth disease, dominant intermediate B (CMTDIB)
- Charcot-Marie-Tooth disease, recessive intermediate c (CMTRIC)
- Charcot-Marie-Tooth disease, type 2L (CMT2L)
- Charcot-Marie-Tooth disease, type 2M (CMT2M)
- Charcot-Marie-Tooth disease, type 4J (CMT4J)
- Congenital disorder of glycosylation type 1E (CDG1E)
- Congenital disorder of glycosylation type 1O (MDDGC15)
- Congenital disorder of glycosylation type 1u (CDG1U)
- Congenital disorder of glycosylation, type Ia (CDG1A), lab preferred: Carbohydrate-deficient glycoprotein syndrome type I
- Congenital muscular dystrophy due to partial LAMA2 deficiency
- Congenital muscular dystrophy, LMNA-related (MDCL)
- Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 (MDDGB5)
- Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 (MDDGA5)
- Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 (MDDGA2)
- Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
- Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 (MDDGA7)
- Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 (MDDGB1)
- Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 (MDDGB2)
- Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 (MDDGB3)
- Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 (MDDGB6)
- Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 (MDDGB4)
- Congenital myasthenic syndrome 1B, fast-channel (CMS1B)
- Congenital myasthenic syndrome 3B (CMS3B), lab preferred: Myasthenic syndrome, congenital, 3b, fast-channel
- Congenital myasthenic syndrome 4C (CMS4C), lab preferred: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
- Congenital myasthenic syndrome, acetazolamide-responsive (CMS16)
- Congenital myopathy with excess of thin filaments
- Congenital myopathy with fiber type disproportion (CFTD)
- Congenital myotonia, autosomal dominant form (THD)
- Congenital myotonia, autosomal recessive form
- Danon disease
- Distal arthrogryposis type 1A (DA1A)
- Distal arthrogryposis type 2B (DA2B1) (DA2B)
- Distal hereditary motor neuronopathy type 2A (HMN2A)
- Distal hereditary motor neuronopathy type 2B (HMN2B)
- Distal hereditary motor neuronopathy type 5 (HMN5)
- Distal hereditary motor neuronopathy type 5B (HMN5B)
- Distal hereditary motor neuronopathy type 7B (HMN7B)
- Distal myopathy, Tateyama type (MPDT)
- Distal spinal muscular atrophy, X-linked 3 (SMAX3)
- Distal spinal muscular atrophy, autosomal recessive 4 (DSMA4)
- Distal spinal muscular atrophy, congenital nonprogressive (HMN8)
- Dystonia 27 (DYT27)
- EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED
- Eichsfeld type congenital muscular dystrophy (RSMD1)
- Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1)
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2), lab preferred: Benign scapuloperoneal muscular dystrophy with cardiomyopathy
- Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3)
- Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4)
- Emery-Dreifuss muscular dystrophy 5, autosomal dominant (EDMD5)
- Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7)
- Encephalopathy, progressive, with or without lipodystrophy (PELD)
- Endplate acetylcholinesterase deficiency (CMS5)
- Facioscapulohumeral muscular dystrophy 2 (FSHD2)
- Familial hyperkalemic periodic paralysis (HYPP)
- Familial infantile myasthenia (CMS6)
- Fatal infantile hypertonic myofibrillar myopathy
- GNE myopathy (NM), lab preferred: Nonaka myopathy
- Giant axonal neuropathy 1 (GAN1), lab preferred: Giant axonal neuropathy
- Glycogen storage disease IXd (GSD9D)
- Glycogen storage disease, type II (GSD2)
- Glycogen storage disease, type V (GSD5)
- Hereditary sensory neuropathy type IE (HSN1E)
- Hypokalemic periodic paralysis 1 (HOKPP1)
- Hypokalemic periodic paralysis, type 2 (HOKPP2)
- Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1), lab preferred: Inclusion body myopathy with early-onset paget disease and frontotemporal dementia
- Infantile onset spinocerebellar ataxia (MTDPS7), lab preferred: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
- King Denborough syndrome
- Lethal arthrogryposis with anterior horn cell disease (CAAHD)
- Lethal congenital contracture syndrome 1 (LCCS1)
- Lethal congenital contracture syndrome 5 (LCCS5)
- Lethal multiple pterygium syndrome (LMPS)
- Limb-girdle muscular dystrophy, type 1B (LGMD1B)
- Limb-girdle muscular dystrophy, type 1E (LGMDD1)
- Limb-girdle muscular dystrophy, type 1F (LGMDD2)
- Limb-girdle muscular dystrophy, type 1G (LGMDD3)
- Limb-girdle muscular dystrophy, type 2A (LGMDR1)
- Limb-girdle muscular dystrophy, type 2J (LGMDR10)
- Limb-girdle muscular dystrophy, type 2L (LGMDR12)
- Limb-girdle muscular dystrophy, type 2Q (LGMDR17)
- Limb-girdle muscular dystrophy, type 2S (LGMDR18)
- Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 (MDDGC1)
- Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 (MDDGC2)
- Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 (MDDGC3)
- Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 (MDDGC4)
- Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 (MDDGC5)
- Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 (MDDGC9)
- Lipodystrophy, congenital generalized, type 4 (CGL4)
- MYH7-related late-onset scapuloperoneal muscular dystrophy (SPMM), lab preferred: Scapuloperoneal myopathy, MYH7-related
- Marinesco-Sjögren syndrome (MSS)
- Megaconial type congenital muscular dystrophy (MDCMC), lab preferred: Muscular dystrophy, congenital, megaconial type
- Menkes kinky-hair syndrome (MNK) (MK)
- Merosin deficient congenital muscular dystrophy (MDC1A)
- Metatrophic dysplasia
- Minicore myopathy with external ophthalmoplegia, lab preferred: Minicore myopathy
- Mitochondrial DNA depletion syndrome 1 (MNGIE type) (MTDPS1)
- Mitochondrial DNA depletion syndrome 11 (MTDPS11)
- Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant (MTDPS12A)
- Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive (MTDPS12B)
- Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) (MTDPS13)
- Mitochondrial DNA depletion syndrome 2 (MTDPS2)
- Mitochondrial DNA depletion syndrome 4B, MNGIE type (MTDPS4B)
- Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MTDPS5)
- Mitochondrial DNA depletion syndrome 8B (MNGIE type) (MTDPS8B)
- Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) (MTDPS9)
- Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy (MTDPS8A)
- Miyoshi muscular dystrophy 1 (MMD1)
- Miyoshi muscular dystrophy 3 (MMD3)
- Muscle AMP deaminase deficiency (MMDD)
- Muscle eye brain disease (MEB) (MDDGA3)
- Muscular dystrophy, congenital, due to integrin alpha-7 deficiency, lab preferred: Muscular dystrophy, congenital, due to ITGA7 deficiency
- Muscular dystrophy, limb-girdle, type 2R (LGMD2R)
- Muscular dystrophy, limb-girdle, type 2W (MDRCMTT)
- Muscular dystrophy, limb-girdle, type 2y (MRRSDC)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (MDDGA1)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 (MDDGA10)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 (MDDGA11)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 (MDDGA12)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 (MDDGA13)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 (MDDGA14)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 (MDDGA8)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 (MDDGA9)
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 (MDDGB14)
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 (MDDGC12)
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 (MDDGC14)
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 (MDDGC7)
- Myasthenia, limb-girdle, familial (CMS10)
- Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11)
- Myasthenic syndrome, congenital, 20, presynaptic (CMS20)
- Myasthenic syndrome, congenital, 2a, slow-channel (CMS2A)
- Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency (CMS2C)
- Myasthenic syndrome, congenital, 3a, slow-channel (CMS3A)
- Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency (CMS3C)
- Myasthenic syndrome, congenital, 4a, slow-channel (CMS4A)
- Myasthenic syndrome, congenital, 4b, fast-channel (CMS4B)
- Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9)
- Myasthenic syndrome, slow-channel congenital (CMS1A)
- Myoclonic dystonia 11 (DYT11), lab preferred: Myoclonic dystonia
- Myofibrillar myopathy 1 (MFM1)
- Myofibrillar myopathy 3 (MFM3), lab preferred: Limb-girdle muscular dystrophy, type 1A (LGMD1A)
- Myofibrillar myopathy, BAG3-related (MFM6)
- Myofibrillar myopathy, ZASP-related (MFM4)
- Myofibrillar myopathy, filamin C-related (MFM5)
- Myopathy with postural muscle atrophy, X-linked (XMPMA)
- Myopathy, actin, congenital, with cores
- Myopathy, areflexia, respiratory distress, and dysphagia, early-onset (EMARDD)
- Myopathy, centronuclear, 1 (CNM1)
- Myopathy, centronuclear, 2 (CNM2), lab preferred: Autosomal recessive centronuclear myopathy
- Myopathy, centronuclear, 3 (CNM3)
- Myopathy, centronuclear, 4 (CNM4)
- Myopathy, centronuclear, 5 (CNM5)
- Myopathy, congenital, compton-north (MYPCN)
- Myopathy, distal, 1 (MPD1)
- Myopathy, distal, 4 (MPD4)
- Myopathy, distal, with anterior tibial onset (DMAT)
- Myopathy, early-onset, with fatal cardiomyopathy (SALMY)
- Myopathy, myofibrillar, 9, with early respiratory failure (MFM9), lab preferred: Hereditary myopathy with early respiratory failure
- Myopathy, proximal, and ophthalmoplegia (MYPOP), lab preferred: Inclusion body myopathy 3
- Myopathy, reducing body, X-linked, childhood-onset (RBMX1B)
- Myopathy, reducing body, X-linked, early-onset, severe (RBMX1A)
- Myosclerosis, autosomal recessive
- Myosin storage myopathy (MSMA)
- Myotonia levior
- Nemaline myopathy 1 (NEM1)
- Nemaline myopathy 10 (NEM10)
- Nemaline myopathy 2 (NEM2)
- Nemaline myopathy 3 (NEM3), lab preferred: Congenital myopathy with excess of thin filaments
- Nemaline myopathy 4 (NEM4)
- Nemaline myopathy 5 (NEM5)
- Nemaline myopathy 6 (NEM6)
- Nemaline myopathy 7 (NEM7)
- Nemaline myopathy 8 (NEM8)
- Nemaline myopathy 9 (NEM9)
- Neurogenic scapuloperoneal syndrome, Kaeser type (SCPNK), lab preferred: Scapuloperoneal syndrome, neurogenic, Kaeser type
- Neuromuscular disease, congenital, with uniform type 1 fiber (CNMDU1)
- Neuronopathy, distal hereditary motor, type viia (HMN7A)
- Neutral lipid storage myopathy (NLSDM), lab preferred: Neutral lipid storage disease with myopathy
- Oculopharyngeal muscular dystrophy (OPMD)
- Paramyotonia congenita of von Eulenburg (PMC)
- Pena-Shokeir syndrome type I (FADS1) (FADS)
- Perrault syndrome 5 (PRLTS5)
- Perry syndrome
- Pontocerebellar hypoplasia type 1
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 (PEOB1), lab preferred: Cerebellar ataxia infantile with progressive external ophthalmoplegia
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 (PEOB3)
- Progressive sclerosing poliodystrophy (MTDPS4A)
- Rippling muscle disease 2 (RMD2), lab preferred: Rippling muscle disease (LGMD1C)
- Sarcotubular myopathy (LGMDR8)
- Scapuloperoneal myopathy, X-linked dominant (SPM)
- Sengers syndrome, lab preferred: Cataract and cardiomyopathy
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (SANDO), lab preferred: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Severe autosomal recessive muscular dystrophy of childhood - North African type (LGMDR5)
- Spastic paraplegia 17 (SPG17), lab preferred: Silver spastic paraplegia syndrome
- Spastic paraplegia 31, autosomal dominant (SPG31)
- Spheroid body myopathy
- Spinal muscular atrophy, X-linked 2 (SMAX2)
- Spinal muscular atrophy, distal, autosomal recessive, 1 (DSMA1)
- Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant (SMALED1)
- Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant (SMALED2A), lab preferred: Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant
- Spinocerebellar ataxia, autosomal recessive 8 (SCAR8)
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2), lab preferred: Spinocerebellar ataxia autosomal recessive 1 (SCAR1)
- Tibial muscular dystrophy (TMD), lab preferred: Distal myopathy Markesbery-Griggs type
- Ullrich congenital muscular dystrophy 1 (UCMD1)
- Ullrich congenital muscular dystrophy 2 (UCMD2)
- Welander distal myopathy (WDM)
- Wilson-Turner X-linked mental retardation syndrome (WTS)
- Yunis-Varon syndrome (YVS), lab preferred: Yunis Varon syndrome
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.ggc.org/test-finder-item/neuromuscular-disorders-144-gene-sequencing-panel
Specimen source
Cell culture
Cord blood
Fibroblasts
Fresh tissue
Isolated DNA
Peripheral (whole) blood
Saliva
Skin
- Molecular Genetics
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Summary of what is tested
144 genes and variants. Click Methodology tab for more
information.
Genes
Not provided
Not provided
- Clinical Testing/Confirmation of Mutations Identified Previously
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