Maple Syrup Urine Disease (MSUD) Mutation Analysis – Ashkenazi Jewish
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.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3‑5 ml
Minimum Volume
Not provided
Container
purple top (EDTA) vacutainer
Collection Instructions
Whole blood inverted several times to mix; forward within 48 hours at room temperature.
Other tests from different labs that may be relevant