Newborn Screening Panel (IEM, Gal, CF, BIOT, CAH, SCID)

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

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	IEM 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 Galactosemia (Gal) To detect conditions that affects the infant’s ability to properly break down galactose (a form of sugar) properly. Cystic Fibrosis (CF) To detect a genetic condition that leads to accumulation of thick mucus in different organs leading to severe chest infections and poor growth. Biotinidase Deficiency (BIOT) To detect conditions where the infant is unable to recycle biotin (vitamin) leading to a deficiency. This can result in complications such as seizures, developmental delay, low muscle tone and skin and hair abnormalities. Congenital Adrenal Hyperplasia (CAH) To detect disorders of hormone production that may affect baby’s metabolism, response to infection, ability to regulate salt levels and sex characteristics. Severe Combined Immune Deficiency (SCID) To detect conditions that cause extremely poor immunity. This causes infants to be highly susceptible to severe infections.

Purpose of Test

IEM 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

Galactosemia (Gal)
To detect conditions that affects the infant’s ability to properly break down galactose (a form of sugar) properly.

Cystic Fibrosis (CF)
To detect a genetic condition that leads to accumulation of thick mucus in different organs leading to severe chest infections and poor growth.

Biotinidase Deficiency (BIOT)
To detect conditions where the infant is unable to recycle biotin (vitamin) leading to a deficiency. This can result in complications such as seizures, developmental delay, low muscle tone and skin and hair abnormalities.

Congenital Adrenal Hyperplasia (CAH)
To detect disorders of hormone production that may affect baby’s metabolism, response to infection, ability to regulate salt levels and sex characteristics.

Severe Combined Immune Deficiency (SCID)
To detect conditions that cause extremely poor immunity. This causes infants to be highly susceptible to severe infections.

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.