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What is Newborn Screening?

Newborn Screening or NBS as it is commonly called, is the simple process of screening newborn babies for rare genetic, hormone-related and metabolic conditions that can cause serious health problems. Early screening allows doctors to diagnose affected babies quickly and start treatment as soon as possible.

Why should my baby be screened?

IEM Affects Anyone

IEM can affect any individuals regardless of ethnicity, age or gender.

No Symptoms

Some IEM diseases can’t be seen by just looking. Affected newborns may appear normal at birth.

Detect Early

Early detection followed by treatment can improve outcomes and help the babies live healthy lives.

Simple Test

More than 40 life-threatening metabolic diseases can be detected from just a few drops of blood.

1 in 3,000 Live Births

About 150 babies out of 500,000 Malaysian newborns* are affected with IEM yearly.
*Source: Salina, 2008. Expanded Newborn Screening of Inborn Errors of Metabolism in Neonatal Dried Blood Spots Using Tandem Mass Spectrometry in Malaysia.

Genetically Inherited

Newborns inherit defective genes from the parents who may be usually healthy but are actually carriers of the abnormal genes.

Standard of Care

Newborn screening has been adopted as a national program in many countries worldwide. It is an integral part of assessing health and well-being of every infant born.


The World Health Organisation (WHO) recommended that newborn screening be
mandatory when early diagnosis and treatment can benefit children.

Adapted from:
World Health Organisation, 1998: Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services.

How is Newborn Screening done?

A few drops of blood will be taken by pricking the baby's heel and sent to laboratory for testing. This is typically done before the baby leaves the hospital, usually at 1 or 2 days of age.

Blood sample should be taken after the first 24 hours of life. Ideally your baby should have at least one feed before the sample is collected. If your baby is discharged early, it is recommended to take a sample within 1 or 2 weeks.

Which screening tests are offered?

BabySafe tests for over 40 metabolic disorders such as Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD) to name a few. Metabolism is the process that converts food into energy that our body uses to move, think, and grow. Most metabolic problems happen when certain enzymes are missing or not working as they should.

We also provide testing for hormone problems such as Congenital Adrenal Hyperplasia (CAH) or haemoglobin problems like Sickle Cell Disease.

Amino Acid Disorders
  • Phenylketonuria (PKU)
  • Benign Hyperphenylalaninemia (H-PHE)
  • Defects of Biopterin Cofactor Biosynthesis (BIOPT BS)
  • Defects of Biopterin Cofactor Regeneration (BIOPT REG)
  • Maple Syrup Urine Disease (MSUD)
  • Citrullinemia Type I (ASA Synthetase)
  • Citrullinemia Type II (Citrin Deficiency)
  • Arginosuccinate Lyase Deficiency (ASA Lyase)
  • Homocystinuria (HCY)
  • Hypermethioninemia (MET)
  • Transient Tyrosinemia of the Newborn (TTN)
  • Tyrosinemia (TYR) Type I*, II, III
  • Argininemia (ARG)

*There is a lower probability of detection of this disorder during the immediate newborn period.

Organic Acid Disorders
  • Isovaleric Acidemia (IVA)
  • Methylmalonyl-CoA Mutase Deficiency (MUT/MMA)
  • Methylmalonic Acidemia (Cobalamin disorders): Cbl A, B
  • Methylmalonic Acidemia with Homocystinuria: Cbl C, D
  • Propionic Acidemia (PA)
  • Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (BKT)
  • 3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency (HMG)
  • Isobutyryl-CoA Dehydrogenase Deficiency (IBG)
  • 2-Methylbutyryl-CoA Dehydrogenase Deficiency (2MGB/SBCAD)
  • 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
  • 3-Methylglutaconyl-CoA Hydratase Deficiency (3MGA)
  • Glutaric Acidemia Type I (GA-I)
  • Multiple-CoA Carboxylase Deficiency (MCD)
Fatty Acid Oxidation Disorders

Disorders Screened by other technologies:

When Are the Results Ready?

Results of newborn screening are ready within 2 to 3 working days after sample reaches our laboratory. Consult your doctor on your next visit.

What does the result mean?

If your baby’s results are “within normal limits”, it indicates your baby is not at risk for any of the disorders screened. However, this would be just for the tests you have consented. Do note that this is just a screening test which offers best chance of identifying the disorders early and does not necessarily preclude a potential positive condition.

If the report indicates a problem, it does not necessarily mean that your baby has a disorder. Further tests might be needed. Your baby needs to be brought back to doctor for further advice. Synapse shall provide advisory support to you and your doctor for treatment and follow up actions.

If a diagnosis is confirmed, doctor might refer your baby to a metabolic specialist for more testing and treatment. When treatment is needed, it is important to start it as soon as possible. Treatment may include special formula, diet restrictions, supplements, medicines and close monitoring.

Support for Parents

As part of our commitment to help parents to further understand the diseases, we provide genetic counselling services by experienced genetic counsellors. Parents seeking help for behavioural and social outcomes of children diagnosed with inherited metabolic disorders can readily access our counsellors at a reasonable rate.

Resources for Parents

  1. Malaysia Metabolic Society
  2. Malaysian Rare Disorders Society
  3. Baby’s First Test
  4. Centre for Disease Control and Prevention (CDC)
  5. Save Babies Through Screening
  6. March of Dimes

Technology Partners

Synapse Laboratory partners with market-leaders in newborn screening and facilitate innovative new technologies to offer unique screening and diagnostic solutions.