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Strand Neuromuscular Disorders Test: Genes & Test Selection 2
Can the Strand Neuromuscular Disorders Test Be Offered for Prenatal Diagnosis? 3
Strand Neuromuscular Disorders Test: Genes & Test Selection
Muscular dystrophies 9 8
Sample Requirements (any one of the following) Saliva in collection kits provided by Strand Blood in EDTA (purple top tube) DNA isolated from blood Buccal swab in collection Kits provided by Strand Dry blood spot Kits provided by Strand Turnaround Time (TAT) -6 weeks from receipt of sample in the lab 6
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Appendix Table 8 : List of disorders covered in Strand Neuromuscular Disorders Test Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. 3-methylglutaconic aciduria type 1 6,XY gonadal dysgenesis-motor and sensory neuropathy syndrome A Abetalipoproteinaemia Aceruloplasminaemia Actin-accumulation myopathy Adrenoleukodystrophy, Spastic paraplegia Adrenomyeloneuropathy Adult polyglucosan body disease Aicardi-Goutieres syndrome Spastic paraplegia Allan-Herndon-Dudley syndrome Spastic paraplegia Alpha-dystroglycanopathy Alternating hemiplegia of childhood, Alzheimer disease Alzheimer disease, type 3, with spastic paraparesis and unusual plaques Spastic paraplegia Amyoloidosis Amyotrophic lateral sclerosis with or without frontotemporal dementia Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis with parkinsonism Amyotrophic lateral sclerosis Andermann syndrome Angelman syndrome Arts syndrome associated neuropathy neuropathy spectrum with neuropathy with oculomotor apraxia with oculomotor apraxia and hypoalbuminemia with oculomotor apraxia type 2 -telangiectasia -Telangiectasia with early onset dystonia Auditory neuropathy 8
Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. Autosomal recessive mutilating sensory neuropathy with spastic paraplegia Spastic paraplegia Axonal neuropathy B Balkan endemic neuropathy Barth syndrome Becker muscular dystrophy Bethlem myopathy Bilateral striopallidodentate calcinosis Blepharospasm Boucher-Neuhauser syndrome Brody myopathy C CAMRQ syndrome CAP myopathy CAPOS syndrome Cardiomyopathy and late-onset polyneuropathy of lower limbs Carpal tunnel syndrome CD9-mediated hemolytic anemia with immune-mediated polyneuropathy Central core disease Centronuclear myopathy Cerebellar ataxia Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Cerebrotendinous xanthomatosis Channelopathy-associated insensitivity to pain Charcot-Marie-Tooth disease Choreadystonic movement disorder and periventricular heterotopia Choreoacanthocytosis Choreoathetosis, hypothyroidism, and neonatal respiratory distress (brain-lung-thyroid syndrome) Chronic non-paroxysmal neuropathic pain Congenital muscular dystrophy with intellectual disability and severe epilepsy Cognitive impairment with or without cerebellar ataxia Collagen Type VI-Related Disorders,,,, 9
Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. Complex dystonia Complicated hereditary spastic paraplegia Congenital disorders of glycosylation, Congenital hypomyelinating neuropathy Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Spastic paraplegia Congenital insensitivity to pain Congenital muscular dystrophy Congenital myasthenic syndrome Congenital myopathy with excess of muscle spindles Costello syndrome Cowchock syndrome D Danon disease, Dejerine-Sottas disease, Demyelinating neuropathy Dilated cardiomyopathy, Dilated cardiomyopathy with ataxia Distal hereditary motor neuronopathy Distal myopathy Distal spinal muscular atrophy Dopamine-responsive dystonia Dravet syndrome Duchenne muscular dystrophy Dyskinesia with facial myokymia Dystonic encephalopathy without hyperphenylalaninemia Dystroglycanopathy Dystrophinopathy E Early onset chorea and dystonia,,,, 10
Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Emery-Dreifuss muscular dystrophy, Encephalomyopathic with or without methylmalonic aciduria Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa with muscular dystrophy and myasthenic syndrome Epilepsy associated ataxia Epileptic encephalopathy, Episodic ataxia Erythermalgia F Fabry disease Facioscapulohumeral muscular dystrophy Familial hypertrophic cardiomyopathy Familial partial lipodystrophy Fatty acid hydroxylase-associated neurodegeneration Focal and generalized dystonia Fragile X-associated tremor/ataxia syndrome Friedreich ataxia Frontotemporal lobar degeneration Amyotrophic lateral sclerosis G Giant axonal neuropathy Gillespie syndrome Glutaric aciduria Glycogen storage diseases, H Hemiplegic migraine Hereditary motor and sensory neuropathy Hereditary myopathy with early respiratory failure Hereditary myopathy with lactic acidosis Hereditary neuralgic amyotrophy Hereditary spastic paraplegia Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis Spastic paraplegia,,, 11
Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. HyperCKemia and muscular dystrophy Hyperkalemic periodic paralysis Hypermanganesemia with dystonia, polycythemia, and cirrhosis Hypoparathyroidism, infanitle-onset and peripheral polyneuropathy I Immune dysfunction with T-cell inactivation due to calcium entry defect Inclusion body myopathy Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia Inherited congenital spastic tetraplegia Intellectual disability, dystonia and sensorineural deafness Intranuclear rod myopathy J Juvenile primary lateral sclerosis Juvenile-onset dystonia K King-Denborough syndrome Kufor-Rakeb syndrome Kufs disease L Laurence-Moon syndrome Learning disability with progressive ataxia, spasticity and dystonia Leigh syndrome Leukodystrophy with spastic paraparesis & dystonia Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Leukoencephalopathy with dystonia and motor neuropathy Leukoencephalopathy-dystonia-motor neuropathy syndrome Liang distal myopathy Limb-girdle muscular dystrophy Lissencephaly type II M Marinesco-Sjogren syndrome McLeod syndrome with or without chronic granulomatous disease MEDNIK syndrome Amyotrophic lateral sclerosis, Spastic paraplegia Amyotrophic lateral sclerosis,,,,,, 12
Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. Mental retardation, X-linked, syndromic, Claes-Jensen type Metachromatic leukodystrophy Mitochondrial cardiomyopathy, Leigh syndrome, neuropathy and optic atrophy Mitochondrial disorders associated ataxia Mitochondrial DNA depletion syndrome Mitochondrial DNA-associated Leigh syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) Mitochondrial membrane protein-associated neurodegeneration Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy, lactic acidosis and sideroblastic anemia Mitochondrial recessive ataxia syndrome Miyoshi myopathy Mohr-Tranebjaerg syndrome Motor and sensory axonal neuropathy plus microcephaly Motor and sensory neuropathy and corpus callosum agenesis Motor and sensory neuropathy with pyramidal signs Motor axonal neuropathy Motor neuron disease, lower Multiminicore disease Multiple system atrophy Muscle-eye-brain disease Muscular dystrophy & mental retardation Muscular dystrophy and peripheral neuropathy Muscular dystrophy with epidermolysis bullosa Muscular dystrophy without cardiomyopathy or brain involvement Muscular dystrophy, Becker with cognitive impairment Muscular dystrophy, Becker with dilated cardiomyopathy & progressive heart failure Muscular dystrophy, congenital, megaconial type Muscular dystrophy-dystroglycanopathy Myoclonic epilepsy myopathy sensory ataxia Spastic paraplegia,,,, Amyotrophic lateral sclerosis,, 13
Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. Myoclonus dystonia Myopathy, congenital, Compton-North Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Myosclerosis myopathy Myosin storage myopathy,, Myotilinopathy N NEB-related core-rod myopathy Nemaline myopathy Neonatal adrenoleukodystrophy Neurodegeneration with brain iron accumulation Neuroferritinopathy Neuronal ceroid lipofuscinoses Neuropathy and bilateral striatal necrosis Neutral lipid storage disease with myopathy Niemann-Pick disease O Oculopharyngeal muscular dystrophy Oliver-McFarlane syndrome Opsoclonus-myoclonus ataxia-like syndrome Optic atrophy plus syndrome P Pain, dysautonomia and acromesomelia Pantothenate kinase-associated neurodegeneration Paramyotonia congenital Parkinson disease Parkinsonism associated dystonia Paroxysmal exertion-induced dyskinesia Paroxysmal extreme pain disorder Paroxysmal kinesigenic dyskinesia Paroxysmal nonkinesigenic dyskinesia Partial lipodystrophy Periaxin-related neuropathy,,,,,,,,, 1
Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease Peripheral neuropathy Periventricular nodular heterotopia with dystonia Peroxisome biogenesis disorder Perrault syndrome with neurologic features Pol III-related leukodystrophy Polyneuropathy Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts Posterior column ataxia & retinitis pigmentosa PRICKLE1-related progressive myoclonus epilepsy with ataxia Primary torsion dystonia Progressive external ophthalmoplegia Progressive myoclonus epilepsy with ataxia Progressive polyneuropathy Prominent sensorimotor neuropathy Proximal myopathy and ophthalmoplegia R Rapid-onset dystonia parkinsonism Refsum disease Rett syndrome Rigid spine muscular dystrophy Roussy-Levy syndrome S Salih myopathy Scapuloperoneal syndrome, myopathic type Segawa syndrome Sensory and autonomic neuropathy Sensory neuropathy with dementia and hearing loss SESAME syndrome Silver spastic paraplegia syndrome Skeletal and cardiac muscular dystrophy Skeletal dysplasia and peripheral neuropathy Slowed nerve conduction velocity Spastic ataxia Spastic paraplegia,,,,,,,,,,, 1
Name of the disorder Category in Strand Neuromuscular Disorders Test Page No. Spheroid body myopathy, Spinal muscular atrophy with respiratory distress Spinal muscular atrophy, late-onset, Finkel type Amyotrophic lateral sclerosis Spinocerebellar ataxia Spinocerebellar ataxia with axonal neuropathy T Thalidomide-induced peripheral neuropathy Thiamine metabolism dysfunction syndrome Tibial muscular dystrophy, Triple A syndrome Tubular aggregate myopathy U Ullrich congenital muscular dystrophy, W Walker-Warburg syndrome Whispering dysphonia Wilson disease Wolfram syndrome Woodhouse-Sakati syndrome X X-linked distal hereditary motor neuropathy X-linked dominant scapuloperoneal myopathy, X-linked infantile spinal muscular atrophy X-linked myopathy with postural muscle atrophy X-linked myotubular myopathy X-linked reducing body myopathy X-linked sideroblastic anemia and ataxia X-linked spinocerebellar ataxia,,,, 16
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