Patients suffering from four life-threatening, rare genetic disorders will not be charged for screening test at public and private hospitals in the state.
The blood test, known as Dried Blood Spot Sampling (DBS), which costs Rs3,500 to Rs4,000, is a primary diagnostic tool for Gaucher (rare genetic disorder affecting spleen, liver, skeletal, abdomen and brain) and three other genetic disorders.
The move will detect more cases of Lysosomal Storage Disorders (a group of around 50 rare inherited metabolic disorders). Officials from Sanofi Genzyme, a biomedical company developing therapies and diagnosis kits for patients affected by LSDs, said attempt is made to reach out to larger number of patients suffering from rare genetic disorders.
The screening test uses enzyme activity to identify patients affected with the disorder before confirming the diagnosis. DBS scores over other conventional methods (blood or plasma samples) in terms of ease of collection, storage and transportation. It is particularly useful for screening rare disease patients in regions lacking specialised laboratories.
Dr Mamta Muranjan, additional professor of paediatrics, in-charge of Genetic Clinic, KEM Hospital, said, “DBS kit involves collection of blood on a special paper. Five drops of blood are collected from a single prick, and vein puncture for blood collection is avoided to make it less painful. It can be sent by post or courier.”
Patients are notified of the results by the diagnostic laboratory in one to two weeks.
Dr Muranjan said, “Early diagnosis of Gaucher’s disease is critical as treatment can be early and complications prevented.”