Neuro Genetics

• Epileptic Disorders: A neurological condition that affects brain activity, leading to recurring seizures.
• Neurocutaneous Disorders: Involve conditions affecting both the nervous system and the skin, such as neurofibromatosis.
• Neuromuscular Disorders: Disorders that affect the muscles and nerves, such as muscular dystrophy, are examples.
• Neurodegenerative Disorders: Include conditions like Alzheimer’s and Parkinson’s disease, where brain function declines over time.
• Neuro Metabolic Disorders: Conditions that arise due to genetic errors in metabolism impacting the nervous system.
• Movement Disorders: Disorders such as dystonia or certain types of tremors.
• Mitochondrial Disorders: Disorders affecting the mitochondria, the energy-producing structures in cells, often impact various organs, including the brain.

Each genetic neurological disorder may present differently in patients, but genetic testing for neurological disorders can be a powerful tool in pinpointing the underlying cause.

Determining the right time for neurogenetic testing depends on several factors. Here are the primary factors guiding the decision:

• Early Clinical Signs: If there are symptoms or signs linked to specific neuroanatomical or pathological changes, genetic testing for neurological disorders may be beneficial.
• Age of Onset: Symptoms that emerge at a young age or in early adulthood are often genetically influenced and should be investigated.
• Inheritance Pattern: Family history can be an important indicator. If the neurological condition follows a specific inheritance pattern, testing may reveal genetic causes.
• Presence of Extra-Neurological Symptoms: Symptoms outside the nervous system, such as those affecting the skin, eyes, or internal organs, can also signal a genetic condition.

Several methodologies are used in neurogenetic testing to provide an accurate analysis of genetic material:

• Next Generation Sequencing (NGS): This advanced technology allows sequencing of the coding regions of numerous genes from a single blood sample. This technique provides a broad view of any genetic mutations associated with neurological disorders.
• Multiplex Ligation-dependent Probe Amplification (MLPA): This method analyses DNA for deletions and duplications, which may reveal causes of genetic disorders.
• Fragment Analysis PCR for Repeat Expansion Analysis: Used for detecting changes in the length of specific DNA sequences, this method is useful for identifying repeat expansions that are linked to certain genetic disorders.

Each method is chosen based on the specific needs of the patient and the suspected condition.