Maple Syrup Urine Disease (MSUD) Mutation Analysis – Ashkenazi Jewish

Clinical Use

Use

Carrier screening in individuals of Ashkenazi Jewish descent, particularly to detect common pathogenic variants in BCKDHA and BCKDHB associated with Maple Syrup Urine Disease as part of a targeted gene panel to assess reproductive risk.

Special Instructions

Not provided.

Limitations

This expanded panel does not rule out rare disease‑causing mutations in other regions of the genes listed. Large deletions and duplications are not specifically tested for and may not be detected. Detection rates and residual risk estimations are based on variant frequencies in the Ashkenazi Jewish population.

Test Details