Biochemical Genetics Department
List of Services
Biochemical Assays:
Lactate (blood, CSF)
Pyruvate
Ammonia
Creatine Kinase
Amino Acids (blood, CSF, urine)
Acylcarnitines (plasma)
Biotinidase
Hexosaminidase A & B
Lysosomal Enzymes
Vitamins A & E
Vitamin B12
Folate
Total Homocysteine
Methylmalonic acid (plasma)
C26:0-LysoPC (plasma)
Urine Screen (Stick)
Urine Spot Tests (Reducing Substances, Nitroprusside test)
Organic acids (urine)
Mucopolysaccharides quantitative (urine)
Mucopolysaccharides (electrophoresis)
Oligosaccharides (TLC)
Sugar Chromatography (TLC)
Muscle Biochemistry:
Mitochondrial Enzymes
Acid Maltase
Dystrophin / Calpain / Dysferlin
Genetic tests:
Whole Exome Sequencing for metabolic disorders
Sanger sequencing for confirmation of NGS result
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