Pediatric testing helps detect a variety of congenital anomalies which can be hereditary, preventable or treatable. The early detection facilitates decision making and early implementation of precision medicine that can help alter the disease course in infants which could otherwise be lethal.
Most of the babies born with genetic disorders appear fine at birth but are likely to become exceptionally unwell soon, causing health issues, developmental delays and even death. Personome offers new born screening which enables the identification of "late onset" conditions that may be seen later in a child's life. The detection of these disorders in a short time with high sensitivity and specificity when the baby is just a few hours old empowers you and your physician to initiate early treatment and best supportive care.
Personome carries out targeted genomic analysis in order to provide definite diagnoses. Our tests help in analyzing and identifying possible molecular variants, indicating high risk of preventable or curable health conditions with onset in newborns or children. We use latest molecular analysis techniques to analyze the child’s unique genetic make-up using little blood sample collected from the newborn’s heel. This helps gain knowledge about the genetic factors which may contribute to certain clinical effects.
A variety of metabolic, blood, endocrine disorders, can be detected at an early age. Some of these disorders covered in new born screening are -
Our high throughput methods along with integrated evidence based clinical and drug data makes a comprehensive and reliable report that helps your pediatrician generate a personalized treatment plan for achieving the best possible clinical outcomes.