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 expert -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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Available Downloads

CENTOGENE Product Sheet Neurology PDF

NGS Panels Neurology – Product Sheet

A targeted approach for testing neurological disorders

Ataxia/Spastic paraplegia panel

Our Ataxia/Spastic paraplegia panel includes genes relevant to hereditary neurological disorders characterized by ataxia, 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. Our ataxia panel is the best option for a patient displaying gait imbalance and uncoordinated walking (ataxia). The most common forms of inherited ataxia are caused by repeat expansion.

No. of genes: 481
TAT: 25 days
Coverage: ≥99.0% ≥20x
Details: Next-generation sequencing with CNV analysis included
mtDNA analysis included

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Ataxia/Spastic paraplegia comprehensive Panel

No. of genes: 492
TAT: 25 days
Coverage: ≥99.0% ≥20x
Details: Next-generation sequencing with CNV included
Repeat expansion analysis included
mtDNA analysis included

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Ataxia Repeat Expansion Panel

No. of genes: 13
TAT: 25 days
Coverage: 100%
Details: Includes repeat expansion analysis for ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PP2R2B, 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: 855
TAT: 15 days / 10 days (fast option)
Coverage: ≥99.0% ≥20x
Details: Only next-generation sequencing. CNV analysis not available.

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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

Available Downloads

CENTOGENE CentoICU Brochure English PDF

CentoICU Brochure

Because life begins today

CentoMito Comprehensive

CentoMito Comprehensive covers the entire mitochondrial genome (≥97% ≥ 200x coverage) with detection of heteroplasmy down to 5% along with nuclear genes related to mitochondrial diseases (≥99.0% ≥20x coverage). Mitochondrial diseases are genetic conditions that occur when mitochondria fails to produce enough energy for the cell. Genetic mutations related to mitochondria cause symptoms mainly in the organs, where energetic consumption is high. These organs include the eye, kidney, pancreas, blood, inner ear, colon, skeletal muscle, heart, and brain.

No. of genes: 450
TAT: 25 days
Coverage: ≥99.0% ≥20x (nuclear mitochondrial genes)
≥97% ≥200x
Details: CNV analysis included
mtDNA analysis included

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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

Available Downloads

CENTOGENE Productsheet Pediatric Neurology English PDF

Pediatric Neurology Panels – Product Sheet

A targeted approach for testing neurological disorders

CentoMito Genome

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

No. of genes: 37
TAT: 25 days
Coverage: ≥97% ≥200x
Details: ≥5% mitochondrial heteroplasmy
can be confidently detected

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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

Available Downloads

CENTOGENE Productsheet Pediatric Neurology English PDF

Pediatric Neurology Panels – Product Sheet

A targeted approach for testing neurological disorders

CentoNeuro

CentoNeuro is our largest panel – designed to detect a great 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. Limitations: DMD is only analyzed by NGS. 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: 1902
TAT: 25 days
Coverage: ≥99.0% ≥20x
Details: CNV analysis included

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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

Available Downloads

CENTOGENE Productsheet Pediatric Neurology English PDF

Pediatric Neurology Panels – Product Sheet

A targeted approach for testing neurological disorders

Amyotrohpic lateral sclerosis (ALS)/Dementia panel

Our Amyotrohpic lateral sclerosis (ALS)/Dementia panel includes genes causing Alzheimer‘s, dementia, and frontotemporal dementia, as well as genes used for differential diagnosis with overlap at any point of the natural history of the disease. Genes inside this panel have been carefully selected to increase the diagnostic yield. Actionable diseases overlapping with the phenotype are included (such as Wilson´s disease, Niemann-Pick disease, and hexosaminidase A deficiency). This panel does not detect Huntington disease.

No. of genes: 105
TAT: 25 days
Coverage: ≥99.0% ≥20x
Details: CNV analysis included
Includes repeat expansion analysis for ATXN2, C9ORF72, PRNP
mtDNA analysis included

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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 a phenotype-directed panel that covers different types of seizure syndromes, covering Dravet syndrome, early infantile epileptic encephalopathy, epilepsy partial, epilepsy generalized, epilepsy absence, myoclonic epilepsy panel, and hypomagnesemia. This panel does not include mitochondrial genes (i.e., genes causing myoclonic epilepsy with ragged red fibers -MERRF-). If the clinical suspicion is oriented towards metabolic or mitochondrial disorders, please order CentoMito comprehensive.

No. of genes: 784
TAT: 25 days
Coverage: ≥99.0% ≥20x
Details: CNV analysis included
Includes repeat expansion analysis for CSTB
mtDNA analysis included

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