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Newborn Screening for IEMs

Biochemical Genetics and National Expanded Newborn Screening (NENS) Laboratory

About Us

The National Expanded Newborn screening programme began service in 2006. The aim of this programme is to screen all babies born in Singapore for metabolic and heritable diseases. Although most newborns with these disorders look healthy at birth, they may be at risk of having serious health problems later in life such as learning difficulties, recurrent sicknesses and even death if their disorder is not detected and treated early.


In our programme, affected babies who are detected and treated promptly have good clinical outcomes. Recently, the scope of testing expanded to include congenital adrenal hyperplasia (CAH), galactosaemia (GAL), biotinidase (BIOT), cystic fibrosis (CF), severe combined immunodeficiency (SCID) and inborn errors of metabolism (IEM) by MS/MS. These six tests can be ordered as a screening panel. Although metabolic diseases are rare individually, cumulatively, the incidence rate may be as high as 1:3,000-3,500 in some categories of metabolic diseases.


Currently, KKH screens 90% of the annual live births in Singapore (average of 40,000 newborns/year).


The Biochemical Genetics Laboratory was also established along with the Newborn Screening Programme to provide confirmatory tests for newborn screening cases, diagnostic tests for inborn errors of metabolism and ongoing monitoring for affected patients. 


Click here for frequently asked questions.

Resources

Information Pamphlets

Tests Available

​Purpose of Test
IEM by Tandem Mass Spectrometry

For early detection of more than 30 clinically important metabolic disorders in the following categories : 
  • Organic Acid Disorders
  • Fatty Acid Oxidation Disorders
  • Amino Acids Disorders
Click here for more information and conditions screened.

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.
​Specimen Requirements

​Heel pricked blood collected on Whatman 903 Filter paper. To request from the NENS lab if necessary. Do ensure that all 5 blood spots are collected.


​Handling
​Ideally samples should be collected between 24 and 72 hours after birth. Card must be dried for 3-4 hours, placed in an envelope and sent to the laboratory.

Contact Us

Biochemical Genetics and National Expanded Newborn Screening Laboratory
Department of Pathology and Laboratory Medicine
KK Women's and Children's Hospital
Children's Tower, Basement 1
100 Bukit Timah Road
Singapore 229899


Phone: (65) 6394 5049/8728
Fax: (65) 6394 3773
Email for enquires:
Metabolic.Newborn.Screening@kkh.com.sg


If a sample was not collected from your baby and you would like to have the test done, please contact the hospital/paeditrician where your baby was delivered to arrange for the test. Alternatively, please contact our nurse coordinator on 81217855 to arrange for sample collection at one of our walk-in clinics at KKH.