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In genetic testing particularly in metabolic disorders the testing is done by a painless urine test for DNA analysis even a cheek swab is sufficient. To know about genetic abnormality during pregnancy their are specialized test like amniocentesis and CVS and after delivery a urine test to know about a metabolic defect.

Before birth all metabolic dysfunction was corrected by mother but after delivery when the baby starts surviving on it own he insufficiencies start becoming visible. This disorder starts harming the baby right from birth but symptoms only appear later. This is the reason why it becomes difficult for parents to believe that the disorder was present since birth it only got diagnosed later in life and the baby is suffering because they did not get the urine test done before.

Urine test is very reliable as it can detect metabolites even in micro concentration. Test results are diagnostic making it reliable.

I remember when my baby was in the nicu, the treatment was based on the urine report. When I further researched this aspect, (I always knew that blood report is the ultimate) to my surprise I found that the urine test which is carried out on Newborns after 48 hours of their birth is 100% reliable. After 48 hours, the metabolic system of the baby kicks in and hence can give the exact levels of the metabolites that are present in the body through the urine. These levels may not been seen accurately in the blood and hence urine is the best method.

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14y ago

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