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Clinical Biochemical Genetics In the Department of Pathology
 Urinary mucopolysaccharides
 Composite thin-layer chromatogram of urinary mucopolysaccharides from a normal individual and patients with Morquio, Hunter and Sanfilippo syndromes

Tests Offered

The Service offers comprehensive testing (listed below), together with detailed interpretations of all test results by an American Board of Medical Genetics (ABMG)-certified biochemical geneticist. Phone consultations are also available for guidance on individual cases.

Amino Acids, Quantitative (Plasma, Urine, Cerebrospinal Fluid)

Branched-Chain Amino Acids, Quantitative (Plasma)

Phenylalanine and Tyrosine, Quantitative (Plasma)

Organic Acid Screen (Urine)

Acylcarnitine Profile, Quantitative (Plasma)

Carnitine (Free and Total) (Plasma, Urine), Quantitative

Methylmalonic Acid, Quantitative (Plasma)

Orotic Acid, Quantitative (Urine)

Biotinidase Activity (Serum)

Mucopolysaccharide Screen (Urine)

Oligosaccharide Screen (Urine)

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