Newborn IEM Screen + Galactosaemia and Cystic Fibrosis (DISCONTINUED)

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 Urgent?

Turn Around Time

2 - 3 working days

Testing Laboratory Location

KKH

Laboratory

NENS Lab

Contact Number

6394 5049

Day and Time Performed

Mon – Fri: 0900 hrs– 1800 hrs

Orderable on CPOE?

Downtime Form

Biochemical Genetics Lab

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 targets.

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.

Cystic Fibrosis Test
To detect cystic fibrosis, an inherited condition that can cause severe damage to the lungs and digestive system.

Visit http://www.cff.org/AboutCF/ for more information.

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 and Cystic Fibrosis BC6456A BC6470 BC6471

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Last Updated - 11 Jul 2025