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Composite thin-layer chromatogram of urinary mucopolysaccharides from a normal individual and patients with Morquio, Hunter and Sanfilippo syndromes |
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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)
Acylcarnitine Profile, Quantitative (Plasma)
Carnitine (Free and Total) (Plasma, Urine), Quantitative
Methylmalonic Acid, Quantitative (Plasma)
Orotic Acid, Quantitative (Urine)
