UNIVERSAL NEWBORN SCREENING

Improving Infant Health Outcomes

BabySafe screens newborn babies for Inborn Errors of Metabolism (IEM). IEM are genetic diseases caused by defective proteins, which are essential for metabolic reactions.

A newborn screening program for early detection of metabolic disorders allows for effective preventive and intervention strategies.

ABOUT

BabySafe IEM 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  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.

GOLD STANDARD

Our
Technology

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.

STATE OF THE ART

Our
Laboratory

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

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..

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.

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.

SIMPLE AND EASY

How is BabySafe IEM
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.

Contact us to find out how you can start offering Babysafe NIPT to your patients

SERVICES

Which disorders are screened?

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)
  • Maple Syrup Urine Disease (MSUD)
  • Citrullinemia Type I (ASA Synthetase)
  • Arginosuccinate Lyase Deficiency (ASA Lyase)
  • Homocystinuria (HCY)
  • Hypermethioninemia (MET)
  • Transient Tyrosinemia of the Newborn (TTN)
  • Tyrosinemia (TYR) Type I*, Type II and Type III
  • Argininemia (ARG)

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
    ‐ Maternal Vitamin B12 Deficiency
  • 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 (2VGB/SBCAD)
  • 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
  • 3-Methylglutaconyl-CoA Hydratase Deficiency (3MGA)
    – Glutaric Acidemia Type | (GA-I)
    – Malonic Aciduria (MA)
  • 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 Palmitoy! Transferase Deficiency Type | (CPT-I)*
  • Carnitine Palmitoyl Transferase Deficiency Type II (CPT-II)

Disorders Screened by other technologies:

  • Galactosemia
  • Congenital Adrenal Hyperplasia
  • Biotinidase Deficiency
  • G6PD Deficiency
  • Congenital Hypothyroidism
  • Cystic Fibrosis(Not valid after 3 months of age)
  • Sickle Cell Disease and non-sickle cell hemoglobinopathies including thalassemia

FAST TURNAROUND TIME

When Are the
Results Ready?

Results of newborn screening are ready within 2 to 3 working days after sample reaches our laboratory. 

REACH OUT TO US

Offer Babysafe Services to your patients

As part of our commitment to help healthcare professionals further understand the diseases, we provide consultation on our services by experienced professionals. Doctors and medical professionals seeking to understand more about Inborn Errors of Metabolism and the services offered by Babysafe please reach out to us to find out more

Contact Us