Each year, an estimated 7.9 million babies worldwide are born with birth defects, many of which appear healthy at birth and come from families with no history of the disorder. Most countries in the world offer a new born screening test to identify some of the common genetic problems such hypothyroidism. However, in Pakistan, many affected babies are not identified until the appearance of severe and often irreversible symptoms later in life. The NOVA Newborn Genetic Test is a screening test that determines a baby’s risk for 80 inherited disorders.
In addition, certain gene mutations may make a baby more sensitive to particular drugs and it may be much safer to use lower doses or avoid them completely. Usually there is no way of anticipating the response to these drugs until after they have been given and had an unexpected effect. Nova tests for 35 pediatric drugs that include Inherited Metabolic Diseases (40) / Congenital Hearing-impairment (1) / Immunode?ciency (6) / Other Monogenic Diseases (3) as well as providing personalized genetic information on the likely response of 20 pediatric drugs including Pharmacogenomics Neurology Drugs (5) / Anti-infection Agents (10) / Rheumatology Drugs (1) / Gastroenterology Drugs (2) / Cardiology Drugs (1) / Oncology Drugs (1).
Utilizing Next Generation Sequencing technology and with access to BGI’s industry leading genetics bioinformatics software, the NOVA Newborn Genetic Test offers one of the most comprehensive and accurate newborn screening tests on the market and enables healthcare providers to achieve early detection, referral and treaent of all babies identified as at high risk of the disorders screened for.