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.