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
An order can be processed using the myPrevent portal. Alternatively, a test requisition form can be downloaded and faxed if not ordering online. Targeted family testing options are available, and additional testing can be explored once the report is received.
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
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