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Test Code 10069

3-Methylcrotonyl-CoA Carboxylase Deficiency Panel

2 genes

2 - 3 weeks (6 - 12 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency
  • Individuals with abnormal newborn screening results showing elevated 3-hydroxyisovalerylcarnitine (C5-OH)
  • Individuals with abnormal biochemical testing showing increased urinary 3-hydroxyisovaleric acid and 3-methylcrotonylglycine and increased C5-OH in blood and urine
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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