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Test Code 3291

Propionic Acidemia 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 propionic acidemia
  • Individuals identified through newborn screening with elevated C3 (propionylcarnitine)
  • Individuals with elevated 3-hydroxypropionate and the presence of methylcitrate, tiglylglycine, propionylglycine, and lactic acid in urine organic acids
  • Individuals with abnormal propionyl-CoA carboxylase enzyme activity in lymphocytes or fibroblasts
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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