[Genetic testing in neurological diseases: a practical guide]

Area of Science:

• Genomic medicine
• Molecular genetics
• Neurology

Context:

• Genomic medicine integrates molecular genetics into clinical consultations.
• Advances in genomic sequencing drive etiological reclassification of neurological disorders.
• Neurological conditions like epileptic encephalopathies, ataxias, and dystonias are increasingly understood through genetic criteria.

Purpose:

• To describe current laboratory studies and their scope in genetic disease diagnostics.
• To emphasize algorithms for studying genetic diseases, particularly in neuropediatrics.
• To promote best practices, minimize diagnostic errors, and reduce the "diagnostic odyssey".

Summary:

• Genomic sequencing enables precise diagnosis and prognosis for neurological conditions.
• Understanding molecular bases of diseases allows for tailored treatments.
• Implementation requires strategies for optimal diagnostic yield and efficient patient management.

Impact:

• Accelerates diagnosis, potentially improving patient quality of life through targeted therapies.
• Reduces diagnostic delays and unnecessary healthcare costs.
• Facilitates evidence-based genetic counseling and informed clinical decision-making.