Integrated sequencing–genomic hybridization method improves genetic diagnosis of Parkinson’s disease

Takeaway

  • A novel integrated exome sequencing and array-based comparative genomic hybridization analysis provides a genetic diagnosis in almost 20% of a familial Parkinson’s disease cohort.

Why this matters

    Obtaining a specific genetic diagnosis for Parkinson’s disease facilitates risk assessment and prognosis and could ultimately influence treatment decisions. These findings suggest that integrated exome sequencing and array-based comparative genomic hybridization analysis is critical for routine, high-confidence genetic diagnosis in familial Parkinson’s disease.