Genetic Testing and Counselling of Rare Diseases

Genetic testing has become a cornerstone of diagnosing rare diseases, with techniques like whole-exome sequencing and targeted gene panels uncovering causative mutations. Genetic counselling provides families with guidance on inheritance, risk assessment, and reproductive choices. Counselling also offers emotional and informational support for navigating the complexities of rare diseases. Enhanced testing accuracy and faster diagnostic pathways contribute to more personalized treatment plans and better patient outcomes.

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