Results

2 hydroxy glutarate chirality

3 Hydroxy Butyrate

7 Dehydrocholesterol

8 Dehydrocholesterol

Acylcarnitines

Amino Acids - Blood Spot (quantitative)

Amino Acids - CSF (quantitative)

Amino Acids - Eye Fluid (quantitative)

Amino Acids - Hair (quantitative)

Amino Acids - Plasma (quantitative)

Amino Acids - Urine (qualitative, screen)

Amino Acids - Urine (quantitative)

Ammonia

Beutler test

Bile Salts

Biotinidase

Carnitine Palmitoyl Transferase Type I

Carnitine Palmitoyl Transferase Type II

Carnitine translocase

Catecholamine Metabolites

Cholestanol

Collagen Cross Links

DHAPAT

Dimethylglycine

Ethylmalonic acid

Fatty acid oxidation screen

Free fatty acids

Fumarate hydratase

Gal-1-PUT

Galactitol

Galactosaemia screen

Galactose-1-Phosphate Uridyl Transferase

Glutarate dehydrogenase

Glycosaminoglycans - Qualitative

Glycosaminoglycans - Quantitative

Hexanoylglycine

Homocysteine

HVA (Homovanillic acid)

Isovalerylglycine

Methylmalonate

Multiple Carboxylase deficiency

Organic Acids (qualitative)

Orotic Acid

Phytanate

Phytosterol

Pipecolic acid

Plasmalogens

Primary carnitine deficiency

Pristanate

Propionyl carboxylase

Pyruvate carboxylase

Sulphocysteine

Trimethylamine

Very Long Chain Fatty Acids

VMA (Vanillylmandelic acid, HMMA)