Biochemical Genetics and National Expanded Newborn Screening (NENS) Laboratory
The National Expanded Newborn Screening Programme aims to provide screening for inborn errors of metabolism (IEM) to all babies born in Singapore. Screening the babies early in life helps early detection and treatment of various metabolic disorders before the onset of symptoms. Individually, these disorders are very rare, but as a whole it affects about 1 in 3000 births in Singapore.
Newborn screening is recognized internationally as an essential preventative health scheme for the detection of metabolic disorders that can affect the health of the baby in the long run. Newborns typically appear well at birth, but if left undiagnosed, these disorders may lead to developmental delay, poor growth, severe illness, brain damage and in some cases even death.
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.
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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