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.

Method

Orderable as STAT?

No

Turn Around Time

2 - 3 working days

Reference Value(s)

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 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.

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