Healthcare Professionals

..improving infant health outcomes...

About Newborn Screening

Newborn screening is a population-based, preventive public health program that is carried out in many countries throughout the world. It enables early identification of selected disorders that without detection and treatment can lead to permanent mental and physical damage or death in affected children.

The goal of newborn screening is to facilitate prevention of developmental impairments, such as mental disability and neurological defects, developmental delay, severe illness, and death through early detection and intervention.

The test is advocated as a screening for metabolic and genetic disorders as most babies are born healthy. However, some infants are born with serious but treatable medical conditions and many babies are asymptomatic at birth. These conditions can be present in any family, even those without a family history as the parents may be carriers. Therefore, screening at birth helps healthcare professionals to identify these conditions early and take intervention steps.

Newborn screening (NBS) programs are an integral part of healthcare services in countries around the world. Such programs are implemented in countries such as the United States, United Kingdom, Australia and Singapore to list a few.

BabySafe Newborn Screening

BabySafe screens newborn babies for Inherited Metabolic Diseases (IEM). IEM are genetic diseases caused by defective proteins, which are essential for metabolic reactions.

The development and advancement of key technologies such as tandem mass spectrometry allows for effective detection of metabolic disorders, some of which are potentially fatal conditions that are not apparent at birth.

Our Technology

Liquid chromatography–mass spectrometry (LC-MS) is an analytical chemistry technique which is widely used to analyze biochemical, organic, and inorganic compounds.

Synapse Laboratory uses Sciex API 3200 QTRAP LC-MS/MS system for newborn screening.

Liquid chromatography-tandem mass spectrometry (LC–MS/MS) has greatly increased the screening possibilities by monitoring levels of amino acids and acylcarnitines in newborns. LC–MS/MS can detect more than 40 inherited disorders with a single run from just a few drops of blood.

This technology has been successfully implemented on a large scale in many jurisdictions across the world including national NBS programs and private laboratories globally.

Our Laboratory

Established since 2007, Synapse Laboratory has been providing medical testing services including DNA / RNA tests and genetic testing for newborns.

Our state-of-the-art laboratory for newborn screening was established using laboratory instruments from Sciex and Perkin Elmer, which are the best in the industry. The filter paper used to collect the blood sample is manufactured by Whatman (a GE Healthcare company) to maintain sample integrity.

As the first and only private newborn screening laboratory in Malaysia, it is our aim to bring this leading-edge technology to physicians and parents at a reasonable price to improve infant health outcomes.

Synapse Laboratory participates in the U.S. Centers for Disease Control (CDC)’s Newborn Screening Quality Assurance Program (NSQAP), a quality control program used by over 650 newborn screening laboratories across the world to assure the accuracy of newborn screening test results.

Through our partnership with internationally accredited laboratory and highly experienced experts in newborn screening, we shall provide advisory support to physicians and parents for treatment and follow up actions.

Our team of highly experienced experts in newborn screening comprises of scientists, pathologists, clinicians and genetic counsellors. With quality results and interpretation, we provide holistic support to physicians and parents for treatment and follow up actions.

Our Services

Newborn Screening requires quick results for healthcare professionals to take immediate intervention for early disease management. Synapse’s BabySafe Newborn Screening provides a quick turnaround time of 2-3 working days.

The qualified team of medical laboratory professionals and pathologists at Synapse work together to analyze and generate reports with clear interpretation and recommendations. As needed, our pathologists advice clinicians on the next course of action including investigations to confirm the diagnosis. We also provide genetic counselling services should you or your patients require such 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
  • Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
  • 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase deficiency (LCHAD)
  • Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
  • Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
  • Short Chain Hydroxyacyl CoA Dehydrogenase Deficiency (SCHAD)
  • Multiple Acyl-CoA Dehydrogenase Deficiency (MADD or GA-II)
  • Trifunctional Protein Deficiency (TFP)
  • Carnitine/Acylcarnitine Translocase Deficiency (CACT)
  • Carnitine Palmitoyl Transferase Deficiency Type I (CPT-I)*
  • Carnitine Palmitoyl Transferase Deficiency Type II (CPT-II)
  • Carnitine Update Defect (CUD)

Disorders Screened by other technologies:

  • Galactosemia
  • Congenital Adrenal Hyperplasia
  • Biotinidase Deficiency
  • G6PD Deficiency
  • Congenital Hypothyroidism
  • Cystic Fibrosis
  • Sickle Cell Disease and non-sickle cell hemoglobinopathies
Conditions Common effects Treatment

Maple Syrup Urine Disease (MSUD)

Defect in breakdown of amino acids from proteins.

Failure to thrive, seizures, developmental delay, coma and death in the newborn

Restricted protein diet, avoid fasting

Phenylketonuria (PKU)

Unable to breakdown phenylalanine (Phe), an amino acid found in most foods including breast milk and infant formula

Severe mental retardation, seizures, eczema, odor

Dietary treatment such as special PKU formula or phenylalanine-restricted food. Phenylalanine and tyrosine should be measured on regular basis


Defects in the breakdown of amino acid

Liver and kidney failure, poor growth, neurologic problems and possible mortality

Restricted protein diet

Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency

Defect in breakdown of fat

Vomiting, lethargy, apnea, coma, cardiopulmonary arrest, or sudden unexplained death

Avoidance of fasting and reduction of dietary fat

Methylmalonic Acidemia (MMA)

Defect in the breakdown of organic acids

Vomiting, poor appetite, seizures, coma, poor growth and possible mortality

Dietary protein restriction and/or vitamin supplementation


Accumulation of citrulline

Poor growth, respiratory failure and neurological disorders

Restricted protein diet


Intolerant to ingested galactose

Poor feeding, poor weight gain, vomiting and diarrhea, lethargy and hypotonia. Hemolytic anemia and septicemia may occur. Long-term might cause impaired neuropsychological development & late neurological complications

Immediate exclusion of dietary galactose (breastfeeding, cow’s milk). Supportive care including treatment with Vitamin K and fresh-frozen plasma for seriously  ill  newborns

Biotinidase Deficiency

Defect in activation of vitamin biotin

Ataxia, hypotonia, developmental delay, conjunctivitis, skin rash and alopecia, seizures, hearing loss, breathing problems, optic atrophy and possible mortality

Vitamin supplementation

Congenital Adrenal Hyperplasia

Defect in steroid hormone production

Salt wasting, failure to thrive, vomiting, poor feeding, hypovolemia, shock develop, virilization with sexual ambiguity at birth, possible mortality

Hormone replacement with oral hydrocortisone

Technology Partners

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