Diagnostic Services


Biochemical Genetics Laboratory Diagnostic Services

AMINO ACID ANALYSIS
Testing is performed using an Amino Acid Analyzer with post column ninhydrin detection. Qualitative Screens and quantitation are performed on serum, urine and cerebral spinal fluid.

ORGANIC ACID ANALYSIS
Testing is performed using a HP GC/MS system. A qualitative screen is performed on urine only.

CARNITINE, FREE AND TOTAL
Testing is performed by radio-enzymatic analysis. Values for free, total and esterfied carnitine are reported on serum and urine.

PHENYLALANINE AND TYROSINE
Testing is performed using a dedicated Amino Acid Analyzer modified to allow rapid analysis of phenylalanine and tyrosine. The system uses post-column fluorescence detection. Analysis can be performed on blood spotted on filter paper, serum or urine.

MUCOPOLYSACCHARIDE SCREEN
Testing consists of two parts. Part one is an Alcian Blue spot test. Part two is thin layer chromatography of isolated glycoaminoglycans. Analysis is performed on urine only.