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Test Code 16039

Low Levels of Free Carnitine (C0) via the SLC22A5 Gene

SLC22A5

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of Primary Carnitine Deficiency
  • Individuals with low free carnitine (C0) levels identified through newborn screening
  • Reproductive partners of individuals with a known pathogenic or likely pathogenic variant in the SLC22A5 gene
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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