Comprehensive Neurology Panel
Neurological disorders affect millions of people worldwide, posing significant challenges to public health. The World Health Organization (WHO) reports that one billion people are affected by neurological disorders, with 50 million suffering from epilepsy and 24 million from Alzheimer’s and other dementias. Understanding the genetic underpinnings of these conditions can lead to better diagnosis, treatment, and prevention strategies. Our Comprehensive Neurology Panel is designed to offer a deep dive into the genetic factors that contribute to various neurological disorders, providing healthcare professionals with the tools they need to offer personalized care to their patients.
Key Conditions Covered
The Comprehensive Neurology Panel is a powerful tool that analyzes a wide range of genes associated with neurological disorders. Using state-of-the-art sequencing technologies and sophisticated variant analysis algorithms, we identify and interpret genetic variants within these genes. The panel covers a broad spectrum of neurological conditions, including:
- Epilepsy: A common neurological disorder characterized by recurrent seizures. Genetic testing can identify specific mutations that contribute to epilepsy, allowing for more tailored treatment plans.
- Alzheimer’s Disease and Dementias: These conditions are linked to various genetic factors that influence the risk of developing dementia. Early detection through genetic testing can lead to proactive management strategies.
- Parkinson’s Disease: A neurodegenerative disorder that affects movement, often starting with a tremor in one hand. Genetic testing can help identify individuals at risk and guide treatment options.
- Multiple Sclerosis (MS): An autoimmune disorder affecting the central nervous system, MS can be influenced by genetic variants that the panel can detect.
- Autism: It is a developmental disorder characterized by a range of symptoms affecting communication, behavior, and social interactions
- Global Developmental Disorders: A group of conditions characterized by significant delays or impairments in multiple areas of development. These disorders typically affect a child‘s ability to reach developmental milestones across various domains
This panel not only identifies genetic variants associated with these conditions but also provides insights into how these variants may influence disease progression, prognosis, and response to treatment.
Aicardi-goutieressyndrome | Congenital myopathy | Familial hemiplegicmigraine | Neuronal migration disorders |
Alzheimer | Dejerine-Sottas Syndrome | Frontotemporal dementia | Oculomotor apraxia |
Amyotrophic Lateral Sclerosis | Dementia | Joubert syndrome | Parkinson‘s disease |
Autism spectrum disorders | Dopa-responsive dystonia | Leigh syndrome and mitochondrial encephalopathy | Pontocerebellar hypoplasia |
Central hypoventilation syndrome | Dravet syndrome | Spastic paraplegia autosomal dominant & recessive | Ullrich congenital muscular dystrophy |
Cerebellar ataxia | Early infantile epileptic encephalopathy | Lissencephaly panel | Waardenburg syndrome |
Cerebral cavernous malformations | Epilepsy | Mental retardation,X-linked | Walker-Warburg syndrome |
Ceroid lipofuscinosis | Epileptic encephalopathy | Myoclonic dystonia | |
Congenital myasthenic syndrome | Episodic ataxia | Myoclonic epilepsy |
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.
When to Consider the Comprehensive Neurology Panel
Healthcare providers should consider utilizing the Comprehensive Neurology Panel in the following situations:
- Unexplained Neurological Symptoms: When patients present with symptoms that do not clearly indicate a specific neurological disorder, genetic testing can help identify the underlying cause.
- Family History of Neurological Disorders: Patients with a family history of conditions such as epilepsy, Alzheimer’s, or Parkinson’s may benefit from genetic testing to assess their risk.
- Early-Onset Neurological Conditions: Genetic testing is particularly valuable in cases of early-onset neurological disorders, where identifying the genetic cause can lead to more targeted treatment options.
- Refractory or Atypical Cases: In situations where patients do not respond to standard treatments or present with atypical symptoms, genetic testing can provide additional insights that guide alternative therapeutic approaches.
- Pre-Symptomatic Testing: For individuals with a known family history of neurological disorders, pre-symptomatic testing can help with early intervention and preventive strategies.
MapmyGenome Offerings
At MapmyGenome, we offer a comprehensive suite of genetic testing services designed to support healthcare providers in delivering personalized care. Our Comprehensive Neurology Panel includes:
- Extensive Gene Coverage: Our panel covers a wide range of genes associated with neurological disorders, providing a thorough analysis of potential genetic factors.
- Advanced Sequencing Technology: We use the latest sequencing technologies to ensure accurate and reliable results.
- Expert Interpretation: Our team of geneticists and bioinformaticians provides detailed interpretation of the results, helping healthcare providers make informed decisions.
- Comprehensive Reporting: Our reports include actionable insights, risk assessments, and recommendations for further testing or management.
- Genetic Counseling Support: We offer genetic counseling services to help patients and their families understand the results and make informed decisions about their health.
Test specification
Technique | Coverage | Variant types | TAT | Sample requirements |
---|---|---|---|---|
NGS | 150 - 180X | SNP | 3 - 4 weeks | 2 ml EDTA Blood / 2 ug DNA |
Learn More:
Read: Neuro Genes
Listen: Decoding Brain Health
Watch: The Power of Comprehensive Neurology Panels