Neoxpert Expanded Screening Panel Test (Newborn Screening 48+ Analytes)

Newborn babies may be afflicted by a variety of conditions including cystic fibrosis, hereditary disorders, haemoglobinopathies, and inherited metabolic disorders (IMDs) from birth. IMDs are brought on by a gene abnormality that causes an enzyme deficit. Therefore, screening is crucial to identify potential fetal problems in newborns as quickly as possible, well before they show any symptoms of the disorder. Early diagnosis enables prompt treatment, which lessens the condition's negative effects.Newborn screening offers one such comprehensive screening method.

NBS, or newborn screening, is commonly referred to as the "baby's first test." Many newborn babies have a minor heel puncture around day two through either voluntary or required programs, and a few drops of blood are collected. This is sent to a diagnostic lab to examine for more than 40 extremely rare illnesses known as inborn metabolic errors. Aminoacidopathies, organic acidemias, fatty acid oxidation disorders, galactosemia, and biotinidase deficiency are among the conditions that can be detected with NBS.

Medically Reviewed by: Dr Alap Christy, MBBS, MD, PGDM-HC, Dept. of Clinical Chemistry