1. Neurology


Clear diagnosis with genetic testing is the basis of effective treatment and management for many disorders of the brain and nervous system. Serving as an invaluable tool, genetic testing enables the identification of inherited neurological conditions, such as delayed mental development, neurodegeneration, learning disabilities, movement disorders, and muscle control. With knowledge of variants associated with neurological diseases in more than 1,850 genes, our vast knowledge and diagnostic expertise can help you diagnose your patients quickly and comprehensively.

Ataxia panel

Our ataxia panel includes genes relevant to hereditary neurological disorders characterized by ataxia, including SCA sequencing, 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. Therefore, we recommend to pair this NGS analysis with our repeat expansion module.

No. of genes:186
TAT:25 days
Coverage:≥99.5% ≥20x
Details:Only NGS sequencing or NGS sequencing with CNV;
No repeat expansion analysis

Ataxia comprehensive panel

No. of genes:196
TAT:25 days
Coverage:≥99.5% ≥20x
Details:NGS sequencing with CNV and
repeat expansion analysis

Ataxia repeat expansion panel

No. of genes:12
TAT:25 days
Details:Includes only repeat
expansion analysis

Repeat expansion analysis: ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, FXN, NOP56, PP2R2B, TBP


Cerebellar ataxia
Episodic ataxia
Pontocerebellar hypoplasia
Spinocerebellar ataxia

Amyotrophic lateral sclerosis (ALS) panel

Our amyotrophic lateral sclerosis (ALS) panel is designed to detect ALS, which is a progressive neurodegenerative disorder characterized by the degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but 5-10% of cases have a family history of the disease (FALS).

No. of genes:36
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV included;
Repeat Expansion: C9ORF72, PRNP


Amyotrophic lateral sclerosis


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:851
TAT:15 days / 10 days (fast option)
Coverage:≥99.5% ≥20x
Details:CNV not available

Common syndromes and disorders covered

Alagille syndrome
Arginase deficiency
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
Hemophilia A
Hemophilia B
Hereditary fructose intolerance
Holocarboxylase synthetase deficiency
Maple syrup urine disease (MSUD)
Non ketotic hyperglicinemia
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 (≥97% ≥ 200x coverage) with detection of heteroplasmy down to 5% along with nuclear genes related to mitochondrial diseases (≥99.5% ≥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:402
TAT:25 days
Coverage:≥99.5% ≥20x (nuclear mitochondrial genes)
≥97% ≥200x (CentoMito® Genome)

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
Neonatal mitochondrial hepatopathies
Pearson syndrome


CentoMito® Genome

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

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

Common syndromes and disorders covered

Chronic progressive external ophthalmoplegia
Kearns-Sayre syndrome
Leber hereditary optic neuropathy
Leigh-like syndrome
Leigh syndrome
Mitochondrial disorders


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 for the DMD gene as an additional service. Some mitochondrial nuclear genes are included; however, the mitochondrial genome is not included.

No. of genes:1489
TAT:25 days
Coverage:≥99.5% ≥20x
Details:Only NGS sequencing

Common syndromes and disorders covered

Amyotrophic lateral sclerosis
Familial hemiplegic migraine
Frontotemporal dementia
Hypogonadotropic hypogonadism
Intellectual disability
Kallman syndrome
Leigh’s syndrome and maternally inherited Leigh’s syndrome
Leukodystrophy and peroxisome biogenesis disorders
Mitochondrial encephalomyopathy
Neonatal mitochondrial hepatopathies
Neuromuscular disorders
Parkinson´s disease
Refsum disease
Spastic paraplegia
Tuberous sclerosis
Zellweger syndrome

Ciliopathies panel

Our ciliopathies panel includes a group of disorders causing cilia dysfunction, including Joubert Syndrome, Bardet- Biedl, COACH syndrome, primary ciliary dyskinesia, Meckel syndrome, skeletal dysplasia, situs inversus, and heterotaxy, among others. If polycystic kidney disease is suspected, CentoNephro Plus is recommended, which includes PKD1 analysis.

No. of genes:191
TAT:25 days
Coverage:≥99.5% ≥20x

Common syndromes and disorders covered

Bardet-Biedl syndrome
Heterotaxy syndrome
Joubert syndrome
Primary ciliary dyskinesia
Skeletal dysplasia
Skeletal ciliopathy

Dementia panel

Our 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:57
TAT:25 days
Coverage:≥99.5% ≥20x
Details:Repeat expansion analysis: ATXN2, C9ORF72, PRNP

Common syndromes and disorders covered

Alzheimer's disease
Frontotemporal dementia
Hexosaminidase A deficiency
Niemann-Pick disease
Wilson´s disease

Dystonia panel

Our dystonia panel includes a selection of genes that help to differentiate between different types of dystonia, including isolated, dystonia plus parkinsonism, dystonia plus myoclonus, dystonia plus another dyskinesia, and complex dystonias. Additionally, our panel includes genes associated with primary familial brain calcification, disorders of heavy metal metabolism, neurodegeneration with brain iron accumulation, some lipid storage disorders, arylsulfatase A deficiency, leukodystrophies, and specific metabolic diseases necessary for differential diagnosis. Our dystonia panel provides the knowledge to help solve the genetic cause of dyskinesia. This panel does not detect Huntington disease or diseases with repeat expansion as the mechanism of disease.

No. of genes:88
TAT:25 days
Coverage:≥99.5% ≥20x

Common syndromes and disorders covered

Complex dystonia
Disorders of heavy metal metabolism
Dopa-responsive dystonia
Myoclonic dystonia
Primary familial brain calcification

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 or CentoGenome®.

No. of genes:540
TAT:25 days
Coverage:≥99.5% ≥20x
Details:Repeat expansion analysis: CSTB

Common syndromes and disorders covered

Aicardi-Goutieres syndrome
Brain iron accumulation syndromes
Congenital glycosylation disease
Dravet syndrome
Early infantile epileptic encephalopathy
Epilepsy (absence) in childhood
Epilepsy (generalized) with febrile seizures
Epilepsy (partial)
Epileptic encephalopathy
Leigh syndrome
Leukodystrophy and peroxisome biogenesis disorders
Lysosomal storage disease
Mitochondrial DNA depletion
Mitochondrial encephalomyopathy
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:604
TAT:25 days
Coverage:≥99.5% ≥20x
Details:Repeat expansion analysis: FMR1

Common syndromes and disorders covered

Aicardi-Goutieres syndrome
Mental retardation AD, AR, XL
Micro syndrome
Neuronal migration disorders
Syndromic autism

Neuromuscular panel

Our neuromuscular panel is ideal for patients with hypotonia, weakness, and muscular diseases. It includes genes causing neurological diseases and covers disorders, such as metabolic myopathies, muscular dystrophies, Ullrich, Bethlem, Charcot- Marie-Tooth, hypotonia, congenital myasthenic syndromes, congenital myopathies, myofibrillar myopathies, and nemaline myopathies. 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 for the DMD gene as an additional service.

No. of genes:277
TAT:25 days
Coverage:≥99.5% ≥20x
Details:Repeat Expansion: DMPK

Common syndromes and disorders covered

Bethlem myopathy
Charcot–Marie–Tooth disease
Congenital myasthenic syndrome
Congenital myopathy
Dejerine-Sottas syndrome
Malignant hyperthermia
Metabolic myopathies
Muscular dystrophy
Muscular dystrophy-dystroglycanopathy type A
Myofibrillar myopathy
Myopathy-rhabdomyolysis syndrome
Nemaline myopathy
Non-dystrophic myotonia congenita
Ullrich muscular dystrophy

Parkinson 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:37
TAT:25 days
Coverage:≥99.5% ≥20x

Common syndromes and disorders covered

Parkinson‘s disease

Spastic paraplegia panel

Our spastic paraplegia panel is recommended for patients displaying spastic gait impairment, spastic weakness, and hyperreflexia. Our panel screens for recessive, dominant, and x-linked forms of hereditary spastic paraplegia (HSP) which can not be distinguished by clinical and neuroimaging parameters alone. For patients that also show complex HSP and display other neurological signs including ataxia, mental retardation, dementia, extrapyramidal signs, visual dysfunction, or epilepsy, we recommend CentoNeuro™.

No. of genes:65
TAT:25 days
Coverage:≥99.5% ≥20x

Common syndromes and disorders covered

Spastic paraplegia, autosomal dominant
Spastic paraplegia, autosomal recessive

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