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Test Code 10635

Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency Panel

2 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 LCHAD/TFP deficiency
  • Individuals with elevated long-chain 3-OH-acylcarnitines on blood acylcarnitine analysis
  • Individuals with abnormal newborn screening results showing elevated C16-OH and C18:1-OH
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
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