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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.

Ataxia panel:

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
Coverage:100%
Details:Includes only repeat
expansion analysis



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

COMMON SYNDROMES AND DISORDERS COVERED

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

COMMON SYNDROMES AND DISORDERS COVERED

Amyotrophic lateral sclerosis

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

Common syndromes and disorders covered

More than 100 associated conditions that become present in the newborn or early childhood

CentoMito® comprehensive

CentoMito® comprehensive covers the entire mitochondrial genome (≥97% ≥ 200x coverage) along with 365 nuclear genes related to mitochondrial diseases (≥99.5% ≥20x coverage). It includes a sequence analysis of 365 nuclear encoded mitochondrial proteins and the complete mitochondrial genome detection of heteroplasmy down to 5%. Large MT gene deletions are also covered by this panel. 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
Details:mitoGenome, and large deletions in mtDNA

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 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
NARP

CentoNeuroTM

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 more than 2,000 genes related to neurological diseases, such as amyotrophic lateral sclerosis, dementia, Parkinson´s, neuromuscular diseases, Charcot-Marie-Tooh, 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 the diagnostic suspicion is high, the clinician must order deletion/duplication for DMD 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
Ataxia
Dementia
Dolichoectasia
Dystonia
Epilepsy
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. Analysis is not included in this panel. 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

Dementia panel

Our dementia panel includes genes causing Alzheimer‘s, dementia, and frontotemporal demetia, as well as genes used for differential diagnosis or diseases 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 (Wilson´s disease, Niemann-Pick disease, hexosaminidase A deficiency). This panel does not detect Huntington disease or repeat expansion disorders.

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
Dementia
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 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. We suggest combining this panel with one of our CentoMito® products in order to exclude the possibility of a mitochondrial disease in your patient (i.e., Leigh, NARP). 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
Dystonia
Leukodystrophy
Myoclonic dystonia
Primary familial brain calcification

Epilepsy panel

While some types of seizures are easily categorized (i.e., partial or generalized), others do not fit or might 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 includes 540 genes 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. 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
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
Myoclonic epilepsy
Urea cycle disorder

Intellectual disability panel

Our new intellectual disability panel is a good option for patients with intellectual disabilities (all mechanisms of inheritance are included), syndromic and non-syndromic autism, microcephaly, neuronal migration disorders, regression, and Aicardi Goutierres. Detection of Fragile X syndrome or imprinting diseases is not possible. For Fragile X syndrome, 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
Microcephaly
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-Tooh, hypotonia, congenital myasthenic syndromes, congenital myopathies, myofibrillar myopathies, and nemaline myopathies. Arthrogryposis is included for differential diagnosis of early-onset neuromuscular disorders. Regarding the DMD gene, we offer the analysis using NGS; however, if the diagnostic suspicion is high, the clinician must order deletion/ duplication for DMD as an additional service.

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

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
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: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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