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

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