Neurology

Genetic testing can clearly diagnose many genetic disorders of the brain and nervous system. It can guide decisions towards more effective medical management and treatments. We have vast knowledge of variants in more than 1,850 genes associated with neurological diseases. Our genetic tests can help diagnose inherited neurological conditions, such as delayed mental development, neurodegeneration, learning disabilities, movement disorders, and poor muscle control, quickly and comprehensively.

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Ataxia / Spastic paraplegia panel

Our Ataxia / Spastic paraplegia panel includes genes relevant to hereditary neurological disorders characterized by ataxia and spastic paraplegia, including spinocerebellar ataxia (dominant and recessive), cerebellar ataxia, episodic ataxia, and pontocerebellar ataxia. These disorders normally share overlapping symptoms and can only be clearly differentiated by molecular genetic testing. Traditionally, ataxias and spastic paraplegia have been classified into separate categories. However, recent information shows that these diseases share genes, pathways and mechanisms and therefore our panel covers both syndromes and involves ataxia-spasticity disease spectrum. Our Ataxia / Spastic paraplegia panel is not only the best option for patients displaying gait imbalance and uncoordinated walking, but also for patients displaying spastic gait impairment, spastic weakness, and hyperreflexia or any of the combinations.

The most common forms of inherited ataxia are caused by repeat expansion mutations, therefore the compre-hensive version of our panel includes repeat expansion analysis.

No. of genes: 483
TAT: 25 business days
Coverage: ≥99.00% ≥20x
Details:
NGS including CNV analysis

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Ataxia / Spastic paraplegia comprehensive panel

No. of genes: 494
TAT: 25 business days
Coverage: ≥99.00% ≥20x
Details:
NGS including CNV analysis
Repeat expansion analysis: ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PPP2R2B, TBP

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Ataxia repeat expansion panel

No. of genes: 13
TAT: 25 business days
Coverage: ≥100.00%
Details:
Repeat expansion analysis: ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PPP2R2B, TBP

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COMMON SYNDROMES AND DISORDERS COVERED
  • Cerebellar ataxia
  • Episodic ataxia
  • Pontocerebellar hypoplasia
  • Spinocerebellar ataxia

CentoICU®

CentoICU® is a comprehensive NGS panel that includes genes explicitly selected for the genetic testing of critically ill newborns and children under 24 months in intensive care units (ICU). It is designed to address multiple genetic conditions that may be present in the newborn or early childhood period, with many having overlapping phenotypes and immediate implications for treatment initiation. It allows clinicians to utilize just one single test to provide an accurate diagnosis of newborn-related diseases using dried blood spots.

No. of genes: 856
TAT: 15 business days
Coverage: ≥99.00% ≥20x

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COMMON SYNDROMES AND DISORDERS COVERED
  • Alagille syndrome
  • Alpha-Thalassemia
  • Arginase deficiency
  • Beta-Thalassemia
  • Biotinidase deficiency
  • Biotin-thiamine-responsive basal ganglia disease
  • Carnitine deficiency
  • Cystic Fibrosis
  • Dystonia DOPA responsive
  • Factor VII deficiency
  • Glucose transporter 1 deficiency
  • Glutaric acidemia Type 1
  • Hereditary fructose intolerance
  • Holocarboxylase synthetase deficiency
  • Maple syrup urine disease (MSUD)
  • Non ketotic hyperglicinemia
  • Phenylketonuria
  • Pompe disease
  • Primary coenzyme Q10 deficiency
  • Pyridoxamine 5 phosphate oxidase deficiency
  • Pyridoxine-dependent epilepsy
  • Pyruvate carboxylase deficiency
  • Tuberous sclerosis complex
  • Tyrosinemia type I
  • VLCAD deficiency

*List does not include all disorders covered by our panel

CentoMito® comprehensive

CentoMito comprehensive covers the entire mitochondrial genome with detection of heteroplasmy down to 15.0 % and tests for nuclear genes related to mitochondrial diseases. Mitochondrial diseases are genetic conditions that occur when mitochondria fail to produce enough energy for the cell. Genetic mutations related to mitochondria cause symptoms mainly in organs, that consume large amounts of energy. These organs include the eye, kidney, pancreas, blood, inner ear, colon, skeletal muscle, heart, and brain.

No. of genes: 451
TAT: 25 business days
Coverage: ≥99.00% ≥20x
Details:
NGS including CNV analysis

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Common syndromes and disorders covered
  • Chronic progressive external ophthalmoplegia
  • Kearns-Sayre syndrome
  • Leigh’s syndrome and maternally inherited Leigh’s syndrome
  • Mitochondrial disorders
  • Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
  • Myoclonus epilepsy with ragged red fibers
  • Myogastrointestinal encephalomyopathy
  • NARP
  • Neonatal mitochondrial hepatopathies
  • Pearson syndrome

CentoMito® Genome

CentoMito Genome includes mitochondrial genes. Nuclear mitochondrial genes are not included.

No. of genes: 37
TAT: 25 business days
Coverage: ≥97.00% ≥200x
Details:
NGS including CNV analysis

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Common syndromes and disorders covered
  • Chronic progressive external ophthalmoplegia
  • Kearns-Sayre syndrome
  • Leber hereditary optic neuropathy
  • Leigh-like syndrome
  • Leigh syndrome
  • Mitochondrial disorders
  • NARP

CentoNeuro

CentoNeuro is our largest panel, designed to detect an array of neurological disorders from neonatal ICU cases to dementia or movement disorders in adults. This panel includes genes related to neurological diseases, such as amyotrophic lateral sclerosis, dementia, Parkinson's, neuromuscular diseases, Charcot-Marie-Tooth, dystonia, epilepsy, autism, intellectual disability, migraine, spastic paraplegia, ataxia, Leigh syndrome, peroxisomal diseases, epileptic encephalopathies, and movement disorders, among others. Please consider that CentoNeuro does not include repeat expansion analysis. If suspicion of neurological disorders caused by repeat expansions we recommend that physicians orders one of our disease specific panels. If there is high suspicion of Duchenne muscular dystrophy, we recommend that clinicians order deletion / duplication analysis by MLPA targeted to the DMD gene.

No. of genes: 1902
TAT: 25 business days
Coverage: ≥99.00% ≥20x
Details:
NGS including CNV analysis

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COMMON SYNDROMES AND DISORDERS COVERED
  • Amyotrophic lateral sclerosis
  • Arthrogryposis multiplex congenita
  • Ataxia
  • Dementia
  • Dolichoectasia
  • Dystonia
  • Epilepsy
  • Familial hemiplegic migraine
  • Frontotemporal dementia
  • Hypogonadotropic hypogonadism
  • Intellectual disability
  • Joubert syndrome
  • Kallman syndrome
  • Leigh syndrome
  • Leukodystrophy and peroxisome biogenesis disorders
  • Meckel syndrome
  • Mitochondrial encephalomyopathy
  • Neonatal mitochondrial hepatopathies
  • Neuromuscular disorders
  • Parkinson´s disease
  • Refsum disease
  • Spastic paraplegia
  • Tuberous sclerosis
  • Zellweger syndrome

Amyotrophic lateral sclerosis (ALS) / Dementia panel

Our amyotrophic lateral sclerosis (ALS) /  Dementia panel is designed to detect ALS, which is a progressive neurodegenerative disorder characterized by the degeneration of the upper and lower motor neurons. In addition, our panel includes genes causing Alzheimer‘s, dementia, and frontotemporal dementia, as well as to differentially diagnose among diseases with overlapping symptoms. Genes included in this panel have been carefully selected to increase the diagnostic yield. Actionable diseases overlapping with the phenotype are included such as Wilson disease, Niemann-Pick, and hexosaminidase A deficiency. This panel does not detect Huntington’s disease.

No. of genes: 105
TAT: 25 business days
Coverage: ≥99.00% ≥20x
Details:
NGS including CNV analysis
Repeat expansion analysis: ATXN2, C9orf72, PRNP

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Common syndromes and disorders covered
  • Alzheimer's disease
  • Dementia
  • Frontotemporal dementia
  • Hexosaminidase A deficiency
  • Niemann-Pick disease
  • Wilson´s disease

Epilepsy panel

While some types of seizures are easily categorized (i.e., partial or generalized), others are not or might later develop into different types — i.e., partial seizures with secondary generalization — making targeted panel testing less likely to succeed at reaching a diagnosis. Our epilepsy panel is phenotype-directed and covers different types of seizure syndromes, covering Dravet syndrome, early infantile epileptic encephalopathy, epilepsy partial, epilepsy generalized, epilepsy absence, myoclonic epilepsy panel, and hypomagnesemia. In addition, our panel includes mitochondrial and nuclear mitochondrial genes (i.e., genes causing myoclonic epilepsy with ragged red fibers –MERRF–).

No. of genes: 783
TAT: 25 business days
Coverage: ≥99.00% ≥20x
Details:
NGS including CNV analysis
Repeat expansion analysis: CSTB

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COMMON SYNDROMES AND DISORDERS COVERED
  • Aicardi-Goutieres syndrome
  • Brain iron accumulation syndromes
  • Congenital glycosylation disease
  • Dravet syndrome
  • Early infantile epileptic encephalopathy
  • Epilepsy
  • Epilepsy (absence) in childhood
  • Epilepsy (generalized) with febrile seizures
  • Epilepsy (partial)
  • Epileptic encephalopathy
  • Hypomagnesemia
  • Leigh syndrome
  • Leukodystrophy and peroxisome biogenesis disorders
  • Lysosomal storage disease
  • Mitochondrial DNA depletion
  • Mitochondrial encephalomyopathy
  • Muscular dystrophy-dystroglycanopathy
  • Myoclonic epilepsy
  • Urea cycle disorder

Intellectual disability panel

Our panel includes genes associated with intellectual disabilities covering all mechanisms of inheritance as well as syndromic and non-syndromic autism, microcephaly, neuronal migration disorders, developmental regression, and Aicardi Goutierres. Detection of Fragile X syndrome is possible, as our panel includes repeat expansion of FMR1.

No. of genes: 820
TAT: 25 business days
Coverage: ≥99.00% ≥20x
Details:
NGS including CNV analysis
Repeat expansion analysis: FMR1

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Common syndromes and disorders covered
  • Aicardi-Goutieres syndrome
  • Bardet-Biedl syndrome
  • Epileptic encephalopathy
  • Intellectual disability AD, AR, XL
  • Micro syndrome
  • Microcephaly
  • Neurodevelopmental disorders
  • Neuronal migration disorders
  • Syndromic autism

Neuromuscular panel

Our neuromuscular panel is ideal for patients with muscular diseases. It includes genes causing neurological diseases and covers disorders, such as metabolic myopathies, muscular dystrophies, Charcot- Marie-Tooth, congenital myasthenic syndromes, congenital myopathies, myofibrillar myopathies, nemaline myopathies, and other syndromes with hypotonia, myotonia, or weakness. Arthrogryposis is included for differential diagnosis of early-onset neuromuscular disorders. If there is high diagnostic suspicion for Duchenne muscular dystrophy, we recommend that the clinician orders deletion/duplication analysis by MLPA targeted to the DMD gene as an additional service.

No. of genes: 355
TAT: 25 business days
Coverage: ≥99.00% ≥20x
Details:
NGS including CNV analysis
Repeat expansion analysis: DMPK
MLPA: SMN1, SMN2

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COMMON SYNDROMES AND DISORDERS COVERED
  • Arthrogryposis
  • Bethlem myopathy
  • Charcot–Marie–Tooth disease
  • Congenital myasthenic syndrome
  • Congenital myopathy
  • Dejerine-Sottas syndrome
  • Hyperekplexia
  • Hypotonia
  • Malignant hyperthermia
  • Metabolic myopathies
  • Muscular dystrophy
  • Muscular dystrophy-dystroglycanopathy type A
  • Myofibrillar myopathy
  • Myopathy-rhabdomyolysis syndrome
  • Nemaline myopathy
  • Non-dystrophic myotonia congenita
  • Spinal muscular atrophy type 1
  • Ullrich muscular dystrophy

Parkinson's disease panel

Our Parkinson’s Disease (PD) panel identifies all relevant pathophysiologically genetic variants for the development and treatment of PD. Characteristic features of PD include neuronal loss in specific areas of the substantia nigra and widespread intracellular protein α-synuclein accumulation. The disease is characterized by three core motor symptoms: tremor, muscle rigidity, and bradykinesia.

No. of genes: 115
TAT: 25 business days
Coverage: ≥99.00% ≥20x
Details:
NGS including CNV analysis

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Common syndromes and disorders covered
  • Alzheimer disease
  • Basal ganglia calcification
  • Niemann-Pick disease
  • Parkinson‘s disease
  • Striatal degeneration

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