Biochemical Genetics and National Expanded Newborn Screening (NENS) Laboratory
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.
here for frequently asked questions.
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.
Detecting a variety of inherited metabolic disorders, including the classical organic acidaemias, fatty acid oxidation disorders, urea cycle defects and some amino acidopathies.
Evaluating the differential diagnosis of hyperammonemia and hereditary orotic aciduria. For female patients, it may be helpful in determining carrier status or exclude OTC deficiency after an allupurinol loading test.
The screening test aims to identify homozygote GALT deficient patients.
Screening of mucopolysaccharide disorders (MPS). Testing includes low voltage electrophoresis in two dimensions on cellulose acetate sheets followed by a staining process with Alcian Blue.
Mucopolysaccharidoses (MPS) are a group of inherited diseases which are characterized by a progressive accumulation of partially degraded glycosaminoglycans (GAGs) in the lysosomes.
Common clinical indications:
Normal: <10-29 mmol/L
Intermediate : 30 to 59 mmol/L
Indicative of CF: >=60 mmol/L
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.
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