NAVIGENE BABY SCREEN
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.
URINE SAMPLE COLLECTION
The urine specimen collection process is very simple. You just need to get the filter papers provided soaked with your newborn baby’s urine. Please ensure that you only take the baby’s urine specimen after 48 hours from time of birth and and at least 24 hour after first feed. Once collected, please air-dry the filter paper for at least for an hour prior to putting it back into the collection kit and courier it to the address mentioned on the envelope.
The earlier the test is done, better it is. The earliest you can collect the sample is 48 hours after the birth of the baby and at least 24 hours after the first feed. You can collect the sample anytime post 48 hours.
The collected urine sample needs to be free of stool. If the filter paper is contaminated with stool, the sample will be rejected. If it is stained, please repeat the procedure using the 2nd piece of filter paper provided. After collection, leave the filter paper to air dry before putting it back into the specimen bag.
Medication will not affect the test results. Due to the highly specific nature of GC/MS technology, our platform can differentiate the drug metabolites from the metabolites of the metabolic disorders we are testing. But we request you to mention the same on the sample collection card.
Only 1 urine specimen collection kit is issued for every purchase. Please get in touch with us in case you need to make a request for more filter papers (charges may apply).