PKU Monitoring - Dried Blood Spot

BC6456A

Synonym(s):
Specimen Container
Guthrie cards
Specimen Requirement
5 well collected blood spots.

Note: This test is for Phe monitoring patient ONLY.
Specimen Storage/Transport
Send blood cards in envelope to Lab. Attention: NENS Laboratory Guthrie Cards for testing.
Orderable as Urgent? No
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? No
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
 
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.
 
PKU Monitoring - Dried Blood Spot BC6456A

Last Updated - 28 May 2025