Maple Syrup Urine Disease Panel
Use
This test is intended for individuals who exhibit symptoms and have a clinical or suspected diagnosis of maple syrup urine disease (MSUD), individuals with elevated levels of branched-chain amino acids such as leucine, isoleucine, valine, and alloisoleucine in plasma testing, and those with abnormal newborn screening results that suggest MSUD.
Special Instructions
Not provided.
Limitations
These tests were created and validated by PreventionGenetics LLC in compliance with CAP and CLIA guidelines, but they have not been cleared or approved by the FDA. Turnaround times vary based on the platform utilized (Exome or Genome). The test may not identify all potential causes of MSUD, especially if unidentified or novel variants are involved.
Methodology
NGS (Targeted)
Biomarkers
BCKDHA, BCKDHB, DBT
Gene
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided