Biochemical Genetics Department
List of Services
Biochemical Assays:
Lactate (blood, CSF)
Pyruvate
Ischaemic Exercise Test
Ammonia
Creatine Kinase
Creatine Kinase Isoenzymes
Amino Acids (blood, CSF, urine)
Acylcarnitines
Urine Screen (Stick)
Urine Spot Tests (Reducing Substances, Nitroprusside test)
Biotinidase
Hexosaminidase A & B
Lysosomal Enzymes Single
Lysosomal Enzymes Screen
Mucopolysaccharides (GAG/creatine ratio)
Mucopolysaccharides (GAG Electrophoresis)
Organic Acids (urine)
DNA isolation /extraction
Total Homocysteine
Sugar Chromatography (TLC)
Oligosaccharides (TLC)
Folate
Homocysteine - B12 - Folate screen
Vitamin A&E
Vitamin D
Vitamin B12
Muscle Biochemistry:
Mitochondrial Enzymes
Phosphorylase
Acid Maltase
Dystrophin / Calpain / Dysferlin
Exome Sequencing:
Clinical Exome Sequencing
Whole Exome Sequencing