Newborn Screening Test

Why Get Tested?
Newborn screening is a sample test to detect inborn errors of metabolism disorders (IEMD),Which can cause severe impediment in growth & development of the baby leading to mental retardation and even death. Early detection & treatment can help to prevent intellectual & physical disabilities and life- threatening illnesses.

Description:

Newborn screening is important for the early detection of many congenital genetic and metabolic disorders, aimed at the earliest possible recognition and
management of affected newborns, to prevent the morbidity, mortality, and disabilities associated with an inherited metabolic disorder. This comprehensive system
includes? testing, education, follow up, diagnosis, treatment, management, and evaluation. There are major differences among many of the disorders being
considered for inclusion in newborn screening programs. In recent times, advances in laboratory technology such as tandem mass spectrometry (MS/MS), which is
more specific, sensitive, reliable, and comprehensive than traditional assays, has increased the number of genetic conditions that can be diagnosed through neonatal
screening programs at birth. With a single dried filter paper blood spot, MS/MS can identify more than 30 inherited metabolic disorders in around two to three
minutes. Advances in the diagnosis and treatment and an increased understanding of the natural history of inborn errors of metabolism have produced pressure to
implement expanded newborn screening programs in many countries

American Academy of Pediatrics Recommended all Newborn infants should be screened for a core panel of treatable congenital disorders.

Sample Requirement:

A small blood sample is taken from baby,s heel & placed on a protein saver card.

Test Preparation

All new Born should be screened between 48-72 Hours after birth.

Test Done by

TMS (tandem mass spectrometry)