Prevention program: The department offers screening for carrier status for common genetic disorders, namely; beta thalassemia, spinal muscular atrophy and fragile X syndrome.
Newborn screening program: National Health Mission funded program for newborn screening for 5 genetic disorders was established in 2015 and till 2019, 65000 newborn babies were screened from 9 hospitals in Lucknow, Barabanki and Raibarelly. Two hundred and fifty seven were diagnosed with Congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, biotinidase deficiency or G6PD deficiency and are being managed.
In 2019, Department of Biotechnology has funded for screening of pregnant women for beta thalassemia and genetic disorders and newborn screening under a big program, UMMID, in district hospital of Shrawasti which is an aspirational district. The outreach and preventive programs for newborn screening and beta thalassemia are the models or preventive medicine reaching the society and especially the women and children of lower socioeconomic strata.
The patients with the following clinical conditions or presentations indicate the need for referral to medical genetics centre for evaluation by clinical geneticists and genetic counseling. A variety of patients with genetic disorders of any system of the body are seen in the medical genetics department.