Comprehensive Neurology panel

The report, Neurological disorders: Public health challenges, reveals that of the one billion people affected worldwide, 50 million suffer from epilepsy and 24 million from Alzheimer and other dementias.1

Our comprehensive neurology panel offers a targeted analysis of genes associated with major brain related disorders. By utilizing advanced sequencing technologies and variant analysis algorithms, we identify and interpret genetic variants within these genes. These variants provide valuable insights into the underlying molecular mechanisms of lung conditions, helping to identify at-risk individuals, provide accurate diagnoses, predict disease progression, assess prognosis, and guide personalized treatment strategies.

With the results obtained from our neurology panel, informed decisions can be made regarding preventive measures, therapeutic interventions, and long-term follow-up. This leads to more precise and personalized care, empowering individuals to take proactive steps in managing their brain health.

Aicardi-goutieressyndrome Familial hemiplegicmigraine Spastic paraplegia autosomal dominant & recessive
Alzheimer Frontotemporal dementia Ullrich congenital muscular dystrophy
Amyotrophic Lateral Sclerosis Joubert syndrome Waardenburg syndrome
Autism spectrum disorders Leigh syndrome and mitochondrial encephalopathy Walker-Warburg syndrome
Bethlem Myopathy Leukodystrophy and peroxisomes biogenesis disorders
Central hypoventilation syndrome Limb-girdle muscular dystrophy
Cerebellar ataxia Lissencephaly panel
Cerebral cavernous malformations Marfan syndrome
Ceroid lipofuscinosis Mental retardation,X-linked
CMT neuropathy axonal autosomal dominant panel Metabolic myopathies
CMT neuropathy demyelinating Microcephaly
Congenital myasthenic syndrome Myoclonic dystonia
Congenital myopathy Myoclonic epilepsy
Deafness, non-syndromic sensorineural autosomal dominant & recessive Myopathy-rhabdomyoly sis
Dejerine-Sottas Syndrome Nemaline myopathy
Dementia Neuronal migration disorders
Dopa-responsive dystonia Noonan - CFC syndrome
Dravet syndrome Oculomotor apraxia
Early infantile epileptic encephalopathy Parkinson‘s disease
Epilepsy Pontocerebellar hypoplasia
Epileptic encephalopathy SCA
Episodic ataxia Seckel syndrome
  Skeletal dysplasia ciliopathy
  Skeletal dysplasia extended

Individual conditions are also offered

Clinical utility:

Test specification

Technique Coverage Variant types TAT Sample requirements
NGS 150 - 180X SNP 3 - 4 weeks 2 ml EDTA Blood / 2 ug DNA