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Test Code 10129
New York approved

Glycine Encephalopathy Panel

11 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 glycine encephalopathy (also called nonketotic hyperglycinemia)
  • Individuals with elevated glycine in plasma and CSF with abnormal CSF-to-plasma glycine ratio
  • Individuals with neonatal or early infantile onset of symptoms
Method
NGS with CNV (Exome or Genome Platform)
Specimen(s)

Exome Platform: Blood, DNA, Buccal, Saliva, Tissue

Genome Platform: Blood, DNA

Order Options

OTHER OPTIONS
for standard institutional pricing.

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