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Test Code 3281

Maple Syrup Urine Disease Panel

3 genes

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of maple syrup urine disease (MSUD)
  • Individuals with elevated branched-chain amino acids (leucine, isoleucine, valine) and alloisoleucine on plasma testing
  • Individuals with abnormal newborn screening results suggesting MSUD
Method
NGS with CNV (Exome or Genome Platform)
Specimen(s)

Exome Platform: Blood, DNA, Buccal, Saliva, Tissue

Genome Platform: Blood, DNA

Order Options

Platform
Test type
OTHER OPTIONS
for pricing.

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