Neurology

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).

Amyotrophic lateral sclerosis

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.

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

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.

Alzheimer's disease

Dementia

Frontotemporal dementia

Hexosaminidase A deficiency

Niemann-Pick disease

Wilson´s disease

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®.

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

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.

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

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™.

Spastic paraplegia, autosomal dominant

Spastic paraplegia, autosomal recessive