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:
- Accurate Diagnosis: Identifies specific genetic variants associated with brain conditions for precise diagnosis.
- Risk Assessment and Prognosis: Detects genetic variants linked to increased risk, enabling early identification and personalized monitoring.
- Family Screening and Genetic Counseling: Facilitates screening of family members for risk assessment and enables informed family planning decisions.
- Research and Advancements: Contributes to ongoing research on the genetic basis of brain related diseases, leading to new discoveries and advancements.
- Personalized Care: Allows tailored interventions and preventive measures based on individual genetic profiles.
- Improved Patient Outcomes: Enhances patient care through precise diagnoses and proactive risk management.
Test specification
| Technique | Coverage | Variant types | TAT | Sample requirements |
|---|---|---|---|---|
| NGS | 150 - 180X | SNP | 3 - 4 weeks | 2 ml EDTA Blood / 2 ug DNA |