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Invitae Cerebral Palsy Spectrum Disorders Panel
Invitae Cerebral Palsy Spectrum Disorders Panel
At a Glance
Diagnosis;
Pre-symptomatic;
Therapeutic management
Gamma-aminobutyric acid transaminase deficiency;
3-methylcrotonyl-CoA carboxylase 1 deficiency;
3-methylcrotonyl-CoA carboxylase 2 deficiency
more...
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Gamma-aminobutyric acid transaminase deficiency
3-methylcrotonyl-CoA carboxylase 1 deficiency
3-methylcrotonyl-CoA carboxylase 2 deficiency
3-methylglutaconic aciduria type 1
4p partial monosomy syndrome
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
ALDH18A1-related de Barsy syndrome
ALG3-congenital disorder of glycosylation
Abetalipoproteinaemia
Acquired hemoglobin H disease
Acute lymphoid leukemia
Acyl-CoA oxidase deficiency
Adenylosuccinate lyase deficiency
Adrenoleukodystrophy
Age related macular degeneration 5
Aicardi-Goutieres syndrome 1
Aicardi-Goutieres syndrome 2
Aicardi-Goutieres syndrome 3
Aicardi-Goutieres syndrome 4
Aicardi-Goutieres syndrome 5
Aicardi-Goutieres syndrome 6
Aicardi-Goutieres syndrome 7
Alcohol dependence
Alexander disease
Allan-Herndon-Dudley syndrome
Alpha thalassemia-X-linked intellectual disability syndrome
Alpha-methylacyl-CoA racemase deficiency
Alternating hemiplegia of childhood 2
Amyotrophic lateral sclerosis type 2, juvenile
Amyotrophic lateral sclerosis type 5
Amyotrophic lateral sclerosis, susceptibility to, 25
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Angelman syndrome
Arginase deficiency
Arginine:glycine amidinotransferase deficiency
Argininosuccinate lyase deficiency
Arthrogryposis multiplex congenita 5
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Ataxia-hypogonadism-choroidal dystrophy syndrome
Ataxia-telangiectasia syndrome
Autism spectrum disorder due to AUTS2 deficiency
Autism, susceptibility to, X-linked 3
Autosomal dominant centronuclear myopathy
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Autosomal dominant nocturnal frontal lobe epilepsy 5
Autosomal dominant nonsyndromic hearing loss 65
Autosomal dominant spastic paraplegia type 9
Autosomal recessive DOPA responsive dystonia
Autosomal recessive Parkinson disease 14
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
Autosomal recessive complex spastic paraplegia type 9B
Autosomal recessive nonsyndromic hearing loss 86
Autosomal recessive spastic paraplegia type 76
Autosomal recessive spastic paraplegia type 78
Autosomal recessive spinocerebellar ataxia 13
Autosomal recessive spinocerebellar ataxia 14
Autosomal recessive spinocerebellar ataxia 16
Autosomal recessive spinocerebellar ataxia 18
Baraitser-Winter syndrome 1
Bardet-Biedl syndrome 14
Becker muscular dystrophy
Benign hereditary chorea
Bethlem myopathy 1A
Bifunctional peroxisomal enzyme deficiency
Biotin-responsive basal ganglia disease
Biotinidase deficiency
Bohring-Opitz syndrome
Brain dopamine-serotonin vesicular transport disease
Brain small vessel disease 1 with or without ocular anomalies
Brain-lung-thyroid syndrome
Brunner syndrome
COACH syndrome 1
Cardiofaciocutaneous syndrome 3
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar atrophy, developmental delay, and seizures
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
Cerebral folate transport deficiency
Cerebral palsy, spastic quadriplegic, 2
Cerebral palsy, spastic quadriplegic, 3
Cerebrooculofacioskeletal syndrome 1
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2V
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease dominant intermediate B
Charcot-Marie-Tooth disease type 4K
Charlevoix-Saguenay spastic ataxia
Chilblain lupus 1
Chilblain lupus 2
Childhood onset GLUT1 deficiency syndrome 2
Cholestanol storage disease
Chorea, childhood-onset, with psychomotor retardation
Chorea-acanthocytosis
Chromosome 2q32-q33 deletion syndrome
Citrullinemia type I
Classic dopamine transporter deficiency syndrome
Classic homocystinuria
Cobalamin C disease
Cockayne syndrome type 1
Cockayne syndrome type 2
Coenzyme Q10 deficiency, primary, 1
Coenzyme Q10 deficiency, primary, 3
Cognitive impairment with or without cerebellar ataxia
Colorectal cancer
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 25
Complex cortical dysplasia with other brain malformations 1
Complex cortical dysplasia with other brain malformations 5
Complex cortical dysplasia with other brain malformations 7
Congenital bile acid synthesis defect 3
Congenital bile acid synthesis defect 4
Congenital disorder of deglycosylation
Congenital disorder of glycosylation, type IAA
Congenital generalized lipodystrophy type 2
Congenital hyperammonemia, type I
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Congenital myasthenic syndrome 13
Congenital myasthenic syndrome 1A
Constitutional megaloblastic anemia with severe neurologic disease
Corneal dystrophy, Fuchs endothelial, 3
Corpus callosum agenesis-abnormal genitalia syndrome
Craniosynostosis 6
Creatine transporter deficiency
Cutis laxa, X-linked
Cutis laxa, autosomal dominant 3
Cystic leukoencephalopathy without megalencephaly
DE SANCTIS-CACCHIONE SYNDROME
DOORS syndrome
DPAGT1-congenital disorder of glycosylation
DYRK1A-related intellectual disability syndrome
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Deficiency of acetyl-CoA acetyltransferase
Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of guanidinoacetate methyltransferase
Deficiency of hydroxymethylglutaryl-CoA lyase
Deficiency of malonyl-CoA decarboxylase
Deficiency of phosphoserine phosphatase
Developmental and epileptic encephalopathy 89
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 11
Developmental and epileptic encephalopathy, 13
Developmental and epileptic encephalopathy, 14
Developmental and epileptic encephalopathy, 16
Developmental and epileptic encephalopathy, 17
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 27
Developmental and epileptic encephalopathy, 3
Developmental and epileptic encephalopathy, 32
Developmental and epileptic encephalopathy, 35
Developmental and epileptic encephalopathy, 36
Developmental and epileptic encephalopathy, 37
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 47
Developmental and epileptic encephalopathy, 5
Developmental and epileptic encephalopathy, 62
Developmental and epileptic encephalopathy, 64
Developmental and epileptic encephalopathy, 7
Developmental and epileptic encephalopathy, 78
Developmental and epileptic encephalopathy, 8
Developmental delay and seizures with or without movement abnormalities
Developmental malformations-deafness-dystonia syndrome
Diencephalic-mesencephalic junction dysplasia syndrome 1
Dihydropteridine reductase deficiency
Dilated cardiomyopathy 3B
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Duchenne muscular dystrophy
Dyskinesia with orofacial involvement, autosomal dominant
Dystonia 12
Dystonia 16
Dystonia 24
Dystonia 25
Dystonia 27
Dystonia 28, childhood-onset
Dystonia 5
Dystonia 9
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Early-onset generalized limb-onset dystonia
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Encephalopathy due to GLUT1 deficiency
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Epilepsy, familial focal, with variable foci 4
Epilepsy, idiopathic generalized, susceptibility to, 12
Epilepsy, idiopathic generalized, susceptibility to, 16
Episodic ataxia type 2
Episodic ataxia, type 9
Episodic kinesigenic dyskinesia 1
Ethylmalonic encephalopathy
Exudative vitreoretinopathy 7
FG syndrome 4
Familial acute necrotizing encephalopathy
Familial cancer of breast
Familial infantile myoclonic epilepsy
Familial isolated deficiency of vitamin E
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Fanconi renotubular syndrome 1
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Fucosidosis
Fumarase deficiency
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM3 synthase deficiency
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Galactosylceramide beta-galactosidase deficiency
Gaucher disease perinatal lethal
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy-paroxysmal dyskinesia syndrome
Gillespie syndrome
Glutaric aciduria, type 1
HSD10 mitochondrial disease
Heimler syndrome 1
Heimler syndrome 2
Hemorrhage, intracerebral, susceptibility to
Hepatocellular carcinoma
Hereditary cryohydrocytosis with reduced stomatin
Hereditary hyperferritinemia with congenital cataracts
Hereditary leiomyomatosis and renal cell cancer
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Hereditary spastic paraplegia 10
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 12
Hereditary spastic paraplegia 13
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia 17
Hereditary spastic paraplegia 18
Hereditary spastic paraplegia 2
Hereditary spastic paraplegia 26
Hereditary spastic paraplegia 28
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 31
Hereditary spastic paraplegia 35
Hereditary spastic paraplegia 39
Hereditary spastic paraplegia 3A
Hereditary spastic paraplegia 4
Hereditary spastic paraplegia 42
Hereditary spastic paraplegia 43
Hereditary spastic paraplegia 44
Hereditary spastic paraplegia 45
Hereditary spastic paraplegia 46
Hereditary spastic paraplegia 47
Hereditary spastic paraplegia 48
Hereditary spastic paraplegia 49
Hereditary spastic paraplegia 50
Hereditary spastic paraplegia 51
Hereditary spastic paraplegia 53
Hereditary spastic paraplegia 54
Hereditary spastic paraplegia 56
Hereditary spastic paraplegia 57
Hereditary spastic paraplegia 5A
Hereditary spastic paraplegia 6
Hereditary spastic paraplegia 61
Hereditary spastic paraplegia 62
Hereditary spastic paraplegia 63
Hereditary spastic paraplegia 64
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia 72
Hereditary spastic paraplegia 73
Hereditary spastic paraplegia 74
Hereditary spastic paraplegia 75
Hereditary spastic paraplegia 77
Hereditary spastic paraplegia 8
Holocarboxylase synthetase deficiency
Holoprosencephaly 2
Holoprosencephaly 3
Holoprosencephaly 4
Holoprosencephaly 5
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Huppke-Brendel syndrome
Hydrocephalus, nonsyndromic, autosomal recessive 1
Hyperammonemia, type III
Hyperekplexia 1
Hyperekplexia 2
Hyperekplexia 3
Hyperekplexia 4
Hyperglycinuria
Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperostosis cranialis interna
Hyperphenylalaninemia due to DNAJC12 deficiency
Hypomyelinating leukodystrophy 2
Hypomyelinating leukodystrophy 4
Hypomyelinating leukodystrophy 6
Hypomyelination and Congenital Cataract
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Iminoglycinuria
Infantile GM1 gangliosidosis
Infantile convulsions and choreoathetosis
Infantile liver failure syndrome 2
Infantile neuroaxonal dystrophy
Infantile-onset ascending hereditary spastic paralysis
Infantile-onset generalized dyskinesia with orofacial involvement
Inosine triphosphatase deficiency
Intellectual developmental disorder with autism and macrocephaly
Intellectual developmental disorder with paroxysmal dyskinesia or seizures
Intellectual disability, X-linked 1
Intellectual disability, X-linked 102
Intellectual disability, X-linked 30
Intellectual disability, X-linked, syndromic 33
Intellectual disability, X-linked, with or without seizures, arx-related
Intellectual disability, autosomal dominant 13
Intellectual disability, autosomal dominant 22
Intellectual disability, autosomal dominant 41
Intellectual disability, autosomal dominant 42
Intellectual disability, autosomal dominant 5
Intellectual disability, autosomal dominant 55, with seizures
Intellectual disability, autosomal dominant 56
Intellectual disability, autosomal dominant 6
Intellectual disability, autosomal dominant 8
Intellectual disability, autosomal dominant 9
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Isolated focal cortical dysplasia type II
Joubert syndrome 3
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome with renal defect
Juvenile myelomonocytic leukemia
Juvenile primary lateral sclerosis
Keppen-Lubinsky syndrome
Kleefstra syndrome 1
Kleefstra syndrome 2
Kufor-Rakeb syndrome
L-2-hydroxyglutaric aciduria
L-ferritin deficiency
LEOPARD syndrome 1
Laurence-Moon syndrome
Leber congenital amaurosis 10
Lesch-Nyhan syndrome
Lethal multiple pterygium syndrome
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Lewy body dementia
Liang-Wang syndrome
Lipoic acid synthetase deficiency
Lissencephaly due to LIS1 mutation
Lissencephaly type 3
Lymphatic malformation 3
MASA syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Macular dystrophy with central cone involvement
Maple syrup urine disease
Marinesco-Sjögren syndrome
Martsolf syndrome 1
Mast syndrome
Meckel syndrome, type 3
Meckel syndrome, type 4
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medulloblastoma
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Melorheostosis
Menke-Hennekam syndrome 1
Menkes kinky-hair syndrome
Merosin deficient congenital muscular dystrophy
Metabolic syndrome X
Metachondromatosis
Metachromatic leukodystrophy
Methylcobalamin deficiency type cblE
Methylcobalamin deficiency type cblG
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Methylmalonic aciduria and homocystinuria type cblD
Methylmalonic aciduria and homocystinuria type cblF
Methylmalonic aciduria, cblA type
Methylmalonic aciduria, cblB type
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
Microcephaly-capillary malformation syndrome
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Microphthalmia, isolated, with coloboma 5
Microphthalmia, syndromic 1
Migraine, familial hemiplegic, 1
Migraine, familial hemiplegic, 3
Mitchell syndrome
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 9
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial complex IV deficiency, nuclear type 1
Mitochondrial pyruvate carrier deficiency
Mowat-Wilson syndrome
Mucopolysaccharidosis, MPS-III-A
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-D
Mucopolysaccharidosis, MPS-IV-B
Multiple acyl-CoA dehydrogenase deficiency
Multiple congenital anomalies-hypotonia-seizures syndrome 1
Multiple congenital anomalies-hypotonia-seizures syndrome 3
Multiple mitochondrial dysfunctions syndrome 3
Multiple system atrophy 1, susceptibility to
Muscular dystrophy, limb-girdle, autosomal recessive 23
Myasthenic syndrome, congenital, 1B, fast-channel
Myasthenic syndrome, congenital, 25, presynaptic
Myelodysplastic syndrome
Myoclonic dystonia 11
Myoclonic dystonia 26
Myoclonus, familial, 2
Myoclonus, intractable, neonatal
Myopathy, distal, with rimmed vacuoles
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Neonatal pseudo-hydrocephalic progeroid syndrome
Nephronophthisis 1
Nephronophthisis 11
Neu-Laxova syndrome 1
Neu-Laxova syndrome 2
Neural tube defects, folate-sensitive
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Neurodegeneration with brain iron accumulation 2B
Neurodegeneration with brain iron accumulation 4
Neurodegeneration with brain iron accumulation 5
Neurodegeneration with brain iron accumulation 6
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
Neurodevelopmental disorder with involuntary movements
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Neuroferritinopathy
Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronopathy, distal hereditary motor, type 5B
Neuronopathy, distal hereditary motor, type 5C
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 1D
Neuropathy, hereditary sensory, type 2C
Neutral 1 amino acid transport defect
Niemann-Pick disease, type C1
Niemann-Pick disease, type C2
Non-ketotic hyperglycinemia
Noonan syndrome 1
Ogden syndrome
Optic atrophy 12
Ornithine carbamoyltransferase deficiency
Orthostatic hypotension 1
Ovarian neoplasm
PHGDH deficiency
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PMM2-congenital disorder of glycosylation
PSAT deficiency
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Paget disease of bone 3
Parkinson disease 5, autosomal dominant, susceptibility to
Parkinson disease, late-onset
Paroxysmal nocturnal hemoglobinuria 2
Paroxysmal nonkinesigenic dyskinesia 1
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Partington syndrome
Pelizaeus-Merzbacher disease
Peroxisome biogenesis disorder 10A (Zellweger)
Peroxisome biogenesis disorder 10B
Peroxisome biogenesis disorder 11A (Zellweger)
Peroxisome biogenesis disorder 11B
Peroxisome biogenesis disorder 12A (Zellweger)
Peroxisome biogenesis disorder 13A (Zellweger)
Peroxisome biogenesis disorder 14B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder 8B
Peroxisome biogenesis disorder type 3B
Perrault syndrome 1
Phenylketonuria
Pierpont syndrome
Pigmentary pallidal degeneration
Pilomatrixoma
Pitt-Hopkins syndrome
Pontocerebellar hypoplasia type 1B
Pontocerebellar hypoplasia type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 9
Pontocerebellar hypoplasia, type 12
Porencephaly 2
Premature ovarian failure 11
Primary coenzyme Q10 deficiency 8
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive myoclonic epilepsy type 3
Progressive sclerosing poliodystrophy
Propionic acidemia
Proximal myopathy with extrapyramidal signs
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Pulmonary hypertension, neonatal, susceptibility to
Purine-nucleoside phosphorylase deficiency
Pyridoxal phosphate-responsive seizures
Pyridoxine-dependent epilepsy
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E2 deficiency
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Pyruvate dehydrogenase phosphatase deficiency
RHYNS syndrome
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Retinal arterial tortuosity
Retinal dystrophy with leukodystrophy
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinitis pigmentosa 59
Retinitis pigmentosa 73
Rett syndrome
Rett syndrome, congenital variant
Rhizomelic chondrodysplasia punctata type 5
Ritscher-Schinzel syndrome 1
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Salla disease
Sandhoff disease
Schizencephaly
Schizophrenia
Seizures, benign familial infantile, 2
Seizures, benign familial infantile, 3
Seizures, benign familial infantile, 5
Seizures, benign familial neonatal, 1
Senior-Loken syndrome 1
Senior-Loken syndrome 6
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Septo-optic dysplasia sequence
Severe intellectual disability-progressive spastic diplegia syndrome
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Severe myoclonic epilepsy in infancy
Severe neonatal-onset encephalopathy with microcephaly
Severe neurodegenerative syndrome with lipodystrophy
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
Sialic acid storage disease, severe infantile type
Singleton-Merten syndrome 1
Sjögren-Larsson syndrome
Solitary median maxillary central incisor syndrome
Spastic ataxia 1
Spastic ataxia 2
Spastic ataxia 3
Spastic ataxia 4
Spastic ataxia 5
Spastic paraplegia 52, autosomal recessive
Spastic paraplegia, intellectual disability, nystagmus, and obesity
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
Spinocerebellar ataxia 44
Spinocerebellar ataxia 45
Spinocerebellar ataxia 46
Spinocerebellar ataxia 48
Spinocerebellar ataxia type 11
Spinocerebellar ataxia type 13
Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 21
Spinocerebellar ataxia type 23
Spinocerebellar ataxia type 26
Spinocerebellar ataxia type 27
Spinocerebellar ataxia type 28
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 34
Spinocerebellar ataxia type 35
Spinocerebellar ataxia type 38
Spinocerebellar ataxia type 40
Spinocerebellar ataxia type 41
Spinocerebellar ataxia type 42
Spinocerebellar ataxia type 5
Spinocerebellar ataxia type 6
Spongy degeneration of central nervous system
Stargardt disease 3
Striatal degeneration, autosomal dominant 2
Striatonigral degeneration, childhood-onset
Structural brain anomalies with impaired intellectual development and craniosynostosis
Stuttering, familial persistent, 1
Succinate-semialdehyde dehydrogenase deficiency
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Sulfocysteinuria
Symmetrical dyschromatosis of extremities
Syndromic X-linked intellectual disability Claes-Jensen type
Syndromic X-linked intellectual disability Lubs type
Syndromic X-linked intellectual disability Najm type
Systemic lupus erythematosus
Tay-Sachs disease
Tay-Sachs disease, variant AB
Thrombophilia due to thrombin defect
Thyroid cancer, nonmedullary, 1
Tobacco addiction, susceptibility to
Torsion dystonia 2
Torsion dystonia 4
Torsion dystonia 6
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Troyer syndrome
UV-sensitive syndrome 1
UV-sensitive syndrome 2
Ullrich congenital muscular dystrophy 1A
Vanishing white matter disease
Very long chain acyl-CoA dehydrogenase deficiency
Warburg micro syndrome 1
Warburg micro syndrome 2
Wieacker-Wolff syndrome
Wieacker-Wolff syndrome, female-restricted
Wiedemann-Steiner syndrome
Wilson disease
Woodhouse-Sakati syndrome
X-linked complicated corpus callosum dysgenesis
X-linked distal spinal muscular atrophy type 3
X-linked dystonia-parkinsonism
X-linked hydrocephalus syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked lissencephaly with abnormal genitalia
ZTTK syndrome
ABAT (16p13.2);
ABCD1 (Xq28);
ACADM (1p31.1);
ACADVL (17p13.1);
ACAT1 (11q22.3)
more...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
The Invitae Cerebral Palsy Spectrum Disorders Panel analyzes a broad …
Ordering Information
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55004
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Tests can be ordered online or by submitting a paper requisition form.
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Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Test strategy:
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Full gene sequencing and deletion/duplication analysis of targeted gene
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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Conditions
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Total conditions: 638
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 419
Gene
Associated Condition
Germline or Somatic
Allele (Lab-provided)
Variant in NCBI
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
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Diagnosis;
Pre-symptomatic;
Therapeutic management
Target population:
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The Invitae Cerebral Palsy Spectrum Disorders Panel analyzes a broad panel of genes to determine the underlying etiology of cerebral palsy (CP), which is a heterogeneous group of neurodevelopmental conditions characterized by abnormal movements, fluctuating patterns of muscle tone and posture. This panel also includes genes associated with adult-onset neurologic …
The Invitae Cerebral Palsy Spectrum Disorders Panel analyzes a broad panel of genes to determine the underlying etiology of cerebral palsy (CP), which is a heterogeneous group of neurodevelopmental conditions characterized by abnormal movements, fluctuating patterns of muscle tone and posture. This panel also includes genes associated with adult-onset neurologic conditions, including HSPs, SCAs and ALS, as well as the ATM gene for Ataxia-telangiectasia that confers risk an increased risk for malignancy, particularly leukemia and lymphoma. Detection of somatic variations in the PIK3CA gene cannot be guaranteed.
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Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the …
Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the ordering clinician to evaluate our conclusions.
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Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Will the lab re-contact the ordering physician if variant interpretation changes?
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Recommended fields not provided:
Clinical validity,
Clinical utility,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods
Availability:
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Tests performed
Analytical Validity:
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Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.
Assay limitations:
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Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS). Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic …
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. In addition, the analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
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Number:
8884
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
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