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Newborn Screening Ontario
Diagnostic Testing

Biochemical Diagnostics

Newborn Screening Ontario (NSO) offers the following biochemical tests for metabolic diseases:

  • Quantitative amino acids (plasma, urine, CSF)
  • Organic acid analysis (urine)
  • Succinylacetone
  • Acylcarnitines (plasma)
  • 17-hydroxyprogesterone (plasma)
  • Galactose 1 phosphate uridyltransferase screen (GALT) (blood)
  • VMA (urine)
  • HVA (urine)
  • 5-HIAA (urine)
  • Urine Sulfocysteine

Additionally the laboratory will facilitate sending out of samples for specialized metabolic testing after consultation with the Laboratory Director or the Metabolic Physicians.