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Tests and technology


Condition Analyte Method 2nd line test
Congenital Hypothyroidism (CHT) Thyroid stimulating hormone (TSH) Immunoassay (AutoDELFIA®) Not applicable
Phenylketonuria (PKU) Phenylalanine (Phe) Tandem Mass Spectrometry (MS/MS) Tyrosine
Sickle Cell Disease (SCD) Separation and identification of haemoglobin fractions HPLC (ion exchange) using BIORAD Variant NBS Isoelectric Focusing (IEF)
Medium-chain acyl-CoA Dehydrogenase Deficiency (MCADD) Octanoylcarnitine (C8) Tandem Mass Spectrometry (MS/MS) Not applicable
Cystic Fibrosis (CF) Immunoreactive trypsinogen (IRT) Immunoassay (AutoDELFIA®) Mutation analysis
Isovaleric acidaemia (IVA) Isovalerylcarnitine (C5) Tandem Mass Spectrometry (MS/MS) Not applicable
Maple syrup urine disease (MSUD) Leucine/isoleucine/alloisoleucine Tandem Mass Spectrometry (MS/MS) Not applicable
Glutaric aciduria type 1 (GA1) Glutarylcarnitine (C5-DC) Tandem Mass Spectrometry (MS/MS)
Not applicable
Homocystinuria (pyridoxine unresponsive; HCU) Methionine Tandem Mass Spectrometry (MS/MS)
Total homocysteine