Biochemical Genetics and National Expanded Newborn Screening (NENS) Laboratory
KK Women's and Children's Hospital is the birthplace of the National Expanded Newborn screening programme, which has been in service since 2006. The aim of this important healthcare programme is to screen all Singaporean babies 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. These may include learning difficulties, recurrent sickness and even death if their disorder is not detected and treated early.
In our programme, babies detected early and treated by our specialists have been shown to have good clinical outcomes. Recently, the scope of the testing in the NBS programme has been 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 6 tests can be ordered as a screening panel. Individually, these diseases are rare. However, the cumulative 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 (avg. 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 (IEM cases for neonates, children and adults) as well as patient monitoring services of positive cases.
SAC-SINGLAS (ISO 15189)
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.
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. However, it is also possible to contact our nurse coordinator on 81217855 and arrange for sample collection at one of our walk-in clinics at KKH.
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