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Newborn IEM Screen + Galactosaemia (DISCONTINUED)

Test Code:



Specimen Container

​Guthrie cards

Specimen Requirement

5 well collected blood spots.
Heel pricked blood collected on Whatman 903 Filter paper.
Ideally samples should be collected between 24 and 72 hours after birth.

Specimen Storage / Transport

​Send blood cards in envelope to Lab. Attention: NENS Laboratory Guthrie Cards for testing.



Orderable as STAT?


Turn Around Time

​2 - 3 working days

Reference Value(s)

Testing Laboratory Location




Contact Number

6394 5049

Day and Time Performed

​Mon – Fri: 0900 hrs– 1800 hrs

Orderable on CPOE?


Downtime Form

Additional Information

Purpose of Test​

Metabolic Screening by Tandem Mass Spectrometry

For early detection of more than 30 clinically important metabolic disorders in the following categories : 

Primary Targets

Those conditions the programme is aiming to detect

Organic Acid Disorders:
● Propionic acidaemia
● Methylmalonic acidaemia (MUT)
● Cobalamin A/B
● Isovaleric acidaemia
● ß-ketothiolase deficiency
● Glutaric acidaemia type 1
● Malonic aciduria
● 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
● Multiple carboxylase deficiency
Fatty Acid Oxidation Disorders:
● Primary carnitine deficiency / Carnitine uptake deficiency
● Medium chain acyl-CoA dehydrogenase deficiency
● Very long chain acyl-CoA dehydrogenase deficiency
● Long chain hydroxy acyl-CoA dehydrogenase
● Trifunctional protein deficiency
Amino Acids Disorders:
● Phenylketonuria including biopterin defects
● Maple Syrup Urine Disease
● Citrullinaemia type 1
● Argininosuccinic Aciduria
● Tyrosinaemia type 1
● Homocystinuria (pyridoxine unresponsive)
Secondary Conditions
Conditions that may well be identified while investigating abnormal results for the primary
Amino Acid Disorders:
● Hyperphenylalanine
● Argininase deficiency
● Citrin deficiency
● Hypermethioninaemia
● Tyrosinaemia Types 2 and 3
Organic Acid Disorders:
● 3-Methylcrotonyl-CoA carboxylase deficiency
● 2-Methyl-3-hydroxy butyric aciduria
● 3-Methylglutaconyl-CoA dehydratase deficiency
● Isobutyryl-CoA dehydrogenase deficiency
● 2-Methylbutyryl-CoA dehydrogenase deficiency/ short branch chain acyl-CoA
● Ethylmalonic encephalopathy
● Cobalamin C/D
Fatty Acid Oxidation Disorders:
● Carnitine palmitoyltransferase deficiency type 1
● Carnitine palmitoyltransferase deficiency type 2
● Carnitine-acylcarnitine translocase deficiency
● Multiple acyl-CoA dehydrogenase deficiency / glutaric aciduria type 2
● Short chain acyl-CoA dehydrogenase deficiency
● Medium/Short chain hydroxy acyl-CoA dehydrogenase deficiency
● Medium chain ketoacyl-CoA thiolase deficiency

Galactosaemia Screening
To screen for conditions that affect the infant’s ability to break down galactose (a form of sugar) properly. ​
Cards must be dried for at least 3-4 hrs on a drying rack before sending to Lab.
Reference ranges are developed on newborns up to 7 days of age.
To request more Guthrie cards from the NENS lab if necessary.
Newborn IEM Screen + Galactosaemia BC6456A BC6470

Change History Notes



Newborn IEM Screen + Galactosaemia

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