Neuromuscular Disorders Sequencing Panel

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000556370.3
Last updated: 2019-05-07
Test version history
- 556370.3, last updated: 2019-05-07
- 556370.2, last updated: 2019-01-15
- 556370.1, last updated: 2018-05-18

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Duchenne muscular dystrophy
Offered by Greenwood Genetic Center Diagnostic Laboratories

Overview

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis

243 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 (ALS14)
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 centronuclear myopathy (CNM2)
Becker muscular dystrophy (BMD)
Benign scapuloperoneal muscular dystrophy with cardiomyopathy (EDMD2)
Bethlem myopathy 1 (BTHLM1)
Bethlem myopathy 2 (BTHLM2)
Brody myopathy
Cap myopathy 1 (CAPM1)
Cap myopathy 2 (CAPM2)
Carbohydrate-deficient glycoprotein syndrome type I (CDG1A)
Cerebellar ataxia infantile with progressive external ophthalmoplegia (PEOB1)
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN)
Charcot-Marie-Tooth disease type 2B1 (CMT2B1)
Charcot-Marie-Tooth disease type 2C (HMSN2C)
Charcot-Marie-Tooth disease type 2D (CMT2D)
Charcot-Marie-Tooth disease type 2F (CMT2F)
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 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, acetazolamide-responsive (CMS16)
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 Markesbery-Griggs type (TMD)
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 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 infantile myasthenia (CMS6)
Fatal infantile hypertonic myofibrillar myopathy
GNE myopathy (NM), lab preferred: Nonaka myopathy
Giant axonal neuropathy (GAN1)
Glycogen storage disease IXd (GSD9D)
Glycogen storage disease, type II (GSD2)
Glycogen storage disease, type V (GSD5)
Hereditary myopathy with early respiratory failure (MFM9)
Hereditary sensory neuropathy type IE (HSN1E)
Hyperkalemic Periodic Paralysis Type 1 (HYPP)
Hypokalemic periodic paralysis 1 (HOKPP1)
Hypokalemic periodic paralysis, type 2 (HOKPP2)
Inclusion body myopathy 3 (MYPOP)
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD1)
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 1A (LGMD1A)
Limb-girdle muscular dystrophy, type 1B (LGMD1B)
Limb-girdle muscular dystrophy, type 1C (LGMD1C)
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 2B (LGMDR2)
Limb-girdle muscular dystrophy, type 2D (LGMDR3)
Limb-girdle muscular dystrophy, type 2E (LGMDR4)
Limb-girdle muscular dystrophy, type 2F (LGMDR6)
Limb-girdle muscular dystrophy, type 2G (LGMDR7)
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)
Marinesco-Sjögren syndrome (MSS)
Menkes kinky-hair syndrome (MK)
Merosin deficient congenital muscular dystrophy (MDC1A)
Metatrophic dysplasia
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 7 (hepatocerebral type) (MTDPS7)
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)
Multiple pterygium syndrome Escobar type (EVMPS)
Muscle AMP deaminase deficiency (MMDD)
Muscle eye brain disease (MDDGA3)
Muscular dystrophy, congenital, due to ITGA7 deficiency
Muscular dystrophy, congenital, megaconial type (MDCMC)
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, 3b, fast-channel (CMS3B)
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, congenital, associated with acetylcholine receptor deficiency (CMS4C)
Myasthenic syndrome, slow-channel congenital (CMS1A)
Myoclonic dystonia (DYT11)
Myofibrillar myopathy 1 (MFM1)
Myofibrillar myopathy 3 (MFM3)
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, Central Core (CCD)
Myopathy, actin, congenital, with cores
Myopathy, actin, congenital, with excess of thin myofilaments
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset (EMARDD)
Myopathy, centronuclear, 1 (CNM1)
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, 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
Myotubular myopathy (CNM)
Native American myopathy (MYPBB)
Nemaline myopathy 1 (NEM1)
Nemaline myopathy 10 (NEM10)
Nemaline myopathy 2 (NEM2)
Nemaline myopathy 3 (NEM3)
Nemaline myopathy 4 (NEM4)
Nemaline myopathy 5 (NEM5)
Nemaline myopathy 6 (NEM6)
Nemaline myopathy 7 (NEM7)
Nemaline myopathy 8 (NEM8)
Nemaline myopathy 9 (NEM9)
Neuromuscular disease, congenital, with uniform type 1 fiber (CNMDU1)
Neuronopathy, distal hereditary motor, type viia (HMN7A)
Neutral lipid storage disease with myopathy (NLSDM)
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 3 (PEOB3)
Progressive sclerosing poliodystrophy (MTDPS4A)
Rippling muscle disease (RMD2)
Sarcotubular myopathy (LGMDR8)
Scapuloperoneal myopathy, MYH7-related (SPMM)
Scapuloperoneal myopathy, X-linked dominant (SPM)
Scapuloperoneal syndrome, neurogenic, Kaeser type (SCPNK)
Sengers syndrome, lab preferred: Cataract and cardiomyopathy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO)
Severe autosomal recessive muscular dystrophy of childhood - North African type (LGMDR5)
Spastic paraplegia 17 (SPG17)
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 2, autosomal dominant (SMALED2A)
Spinocerebellar ataxia autosomal recessive 1 (SCAN2) (SCAR1)
Spinocerebellar ataxia, autosomal recessive 8 (SCAR8)
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)

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

Gene: ACTA1 (1q42.13)
Gene: AGK (7q34)
Gene: AMPD1 (1p13.2)
Gene: ANO5 (11p14.3)
Gene: ATP2A1 (16p11.2)
Gene: ATP7A (Xq21.1)
Gene: B3GALNT2 (1q42.3)
Gene: B4GAT1 (11q13.2)
Gene: BAG3 (10q26.11)
Gene: BICD2 (9q22.31)
Gene: BIN1 (2q14.3)
Gene: BSCL2 (11q12.3)
Gene: CACNA1S (1q32.1)
Gene: CAPN3 (15q15.1)
Gene: CAV3 (3p25.3)
Gene: CAVIN1 (17q21.2)
Gene: CCDC78 (16p13.3)
Gene: CFL2 (14q13.1)
Gene: CHAT (10q11.23)
Gene: CHKB (22q13.33)
Gene: CHRNA1 (2q31.1)
Gene: CHRNB1 (17p13.1)
Gene: CHRND (2q37.1)
Gene: CHRNE (17p13.2)
Gene: CHRNG (2q37.1)
Gene: CLCN1 (7q34)
Gene: CNTN1 (12q12)
Gene: COL12A1 (6q13-14.1)
Gene: COL6A1 (21q22.3)
Gene: COL6A2 (21q22.3)
Gene: COL6A3 (2q37.3)
Gene: COLQ (3p25.1)
Gene: CRPPA (7p21.2)
Gene: CRYAB (11q23.1)
Gene: DAG1 (3p21.31)
Gene: DCTN1 (2p13.1)
Gene: DES (2q35)
Gene: DMD (Xp21.2-21.1)
Gene: DNAJB6 (7q36.3)
Gene: DNM2 (19p13.2)
Gene: DNMT1 (19p13.2)
Gene: DOK7 (4p16.3)
Gene: DPM1 (20q13.13)
Gene: DPM2 (9q34.11)
Gene: DPM3 (1q22)
Gene: DYNC1H1 (14q32.31)
Gene: DYSF (2p13.2)
Gene: EMD (Xq28)
Gene: FBXL4 (6q16.1-16.2)
Gene: FHL1 (Xq26.3)
Gene: FIG4 (6q21)
Gene: FKRP (19q13.32)
Gene: FKTN (9q31.2)
Gene: FLNC (7q32.1)
Gene: GAA (17q25.3)
Gene: GAN (16q23.2)
Gene: GARS1 (7p14.3)
Gene: GLE1 (9q34.11)
Gene: GMPPB (3p21.31)
Gene: GNE (9p13.3)
Gene: HINT1 (5q23.3)
Gene: HNRNPDL (4q21.22)
Gene: HSPB1 (7q11.23)
Gene: HSPB8 (12q24.23)
Gene: IGHMBP2 (11q13.3)
Gene: ITGA7 (12q13.2)
Gene: KBTBD13 (15q22.31)
Gene: KLHL40 (3p22.1)
Gene: KLHL41 (2q31.1)
Gene: LAMA2 (6q22.33)
Gene: LAMP2 (Xq24)
Gene: LARGE1 (22q12.3)
Gene: LAS1L (Xq12)
Gene: LDB3 (10q23.2)
Gene: LIMS2 (2q14.3)
Gene: LMNA (1q22)
Gene: LMOD3 (3p14.1)
Gene: MATR3 (5q31.2)
Gene: MEGF10 (5q23.2)
Gene: MGME1 (20p11.23)
Gene: MTM1 (Xq28)
Gene: MTMR14 (3p25.3)
Gene: MUSK (9q31.3)
Gene: MYF6 (12q21.31)
Gene: MYH2 (17p13.1)
Gene: MYH7 (14q11.2)
Gene: MYOT (5q31.2)
Gene: NEB (2q23.3)
Gene: PABPN1 (14q11.2)
Gene: PHKA1 (Xq13.1)
Gene: PLEC (8q24.3)
Gene: PLEKHG5 (1p36.31)
Gene: PMM2 (16p13.2)
Gene: PNPLA2 (11p15.5)
Gene: POLG (15q26.1)
Gene: POLG2 (17q23.3)
Gene: POMGNT1 (1p34.1)
Gene: POMGNT2 (3p22.1)
Gene: POMK (8p11.21)
Gene: POMT1 (9q34.13)
Gene: POMT2 (14q24.3)
Gene: PYGM (11q13.1)
Gene: RAPSN (11p11.2)
Gene: REEP1 (2p11.2)
Gene: RRM2B (8q22.3)
Gene: RXYLT1 (12q14.2)
Gene: RYR1 (19q13.2)
Gene: SCN4A (17q23.3)
Gene: SELENON (1p36.11)
Gene: SETX (9q34.13)
Gene: SGCA (17q21.33)
Gene: SGCB (4q12)
Gene: SGCD (5q33.2-33.3)
Gene: SGCE (7q21.3)
Gene: SGCG (13q12.12)
Gene: SIL1 (5q31.2)
Gene: SLC25A4 (4q35.1)
Gene: SLC5A7 (2q12.3)
Gene: SMCHD1 (18p11.32)
Gene: SPEG (2q35)
Gene: STAC3 (12q13.3)
Gene: SUCLA2 (13q14.2)
Gene: SUCLG1 (2p11.2)
Gene: SYNE1 (6q25.2)
Gene: SYNE2 (14q23.2)
Gene: TCAP (17q12)
Gene: TIA1 (2p13.3)
Gene: TK2 (16q21)
Gene: TMEM43 (3p25.1)
Gene: TNNI2 (11p15.5)
Gene: TNNT1 (19q13.42)
Gene: TNPO3 (7q32.1)
Gene: TOR1AIP1 (1q25.2)
Gene: TPM2 (9p13.3)
Gene: TPM3 (1q21.3)
Gene: TRAPPC11 (4q35.1)
Gene: TRIM32 (9q33.1)
Gene: TRPV4 (12q24.11)
Gene: TTN (2q31.2)
Gene: TWNK (10q24.31)
Gene: TYMP (22q13.33)
Gene: UBA1 (Xp11.3)
Gene: VCP (9p13.3)
Gene: VRK1 (14q32.2)

Not provided

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

Clinical Testing/Confirmation of Mutations Identified Previously

Reviews

Clinical resources

Practice guidelines

Orphanet, 2013
Orphanet, Duchenne muscular dystrophy, 2013
CDC Respiratory Panel, 2010
The respiratory management of patients with duchenne muscular dystrophy: a DMD care considerations working group specialty article.
CDC DMD Care Considerations Working Group, 2010
Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care.
CDC DMD Care Considerations Working Group, 2010
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management.
DMD Management and Anesthesia - ACCP, 2007
American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation.
AAP, 2005
Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy.
AAN/CNS, 2005
Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

Molecular resources

Consumer resources

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Neuromuscular Disorders Sequencing Panel

Overview

Test name

Purpose of the test

Condition

Methodology

Summary of what is tested

Genes

Clinical validity

Clinical utility

How to order

Test services

Reviews

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Simple NCBI Directory

Getting Started

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