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Test Code 10397

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel

39 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 disorders affecting cobalamin, folate or homocysteine metabolism
  • Individuals with elevated methylmalonic acid, homocysteine, or propionylcarnitine (C3) on newborn screening
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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