The purpose of NBS is to find babies that have the metabolic disorders before they lead to an irreversible damage to mental and/or physical development of the baby.; and above all, ensure that the treatment is initiated in time so that the baby may live a better and healthy life. As most babies who have these conditions look healthy and act normally in the newborn period and NBS is the only way to diagnose these conditions.

Most children with these disorders come from families with no previous history of the condition. Many a times, parents could be just the ‘carriers’ and are likely to pass on the disorders without being aware of the same. Parents who have no family history of problems and/or who have already had healthy children can still have a child with these disorders.

The affected baby look healthy at birth however, there may be hidden disorders which may manifest in future, leading to irreversible damage like mental and physical retardation. New born Screening allows early diagnosis of these disorders & helps prevent serious outcomes. Many of these disorders are now manageable by simple dietary measures, yet when undiagnosed and untreated they have the potential to cause serious medical problems such as irreversible mental and physical retardation and in some cases even death. Hence early & accurate diagnosis of these metabolic genetic disorders is very important in determining long term outcome.

Yes. Older children can be screened. There are certain disorders which affect the child late in the life and manifest around 5-10 years of age.

An abnormal result may indicate the need for a second test to diagnose a condition. Further, If the condition is diagnosed, an early medical intervention will play a key role in helping the baby lead a normal life. In case of abnormal results, we will simultaneously notify your pediatrician and yourself of the screening results. In case you do not have a monitoring pediatrician, we will put you in touch with one of our networked doctors to initiate the treatment immediately.

Please refer to the Technology comparison.

We use the latest gas-chromatography mass spectrometry (GC/MS) platform manufactured by Shimadzu, Japan, this is an extremely sensitive analysis platform that looks at the molecular level to identify the substances present in the urine. After processing the urine specimen through GC/MS, we analyse the GC/MS data using a planar diagnostic tool, first developed by Japanese researchers. The planar diagnostic tool makes use of multiple analytes from more than one biochemical (metabolic) pathway to identify a single metabolic disorder. This means that the results would be far more reliable and accurate than traditional technology using mass tandem spectrometry (MS/MS) as MS/MS only uses about 1 or 2 analyte profiles for each disorder, and often, the same analyte profile is used for multiple disorders.