At a time when the detection of genetic diseases in newborns costs families thousands of rupees, Dr Ram Manohar Lohia (RML) Hospital in Delhi is preparing to launch a dedicated facility that promises to be a major relief for patients and parents. The biochemistry department is setting up advanced machinery to offer free test for more than six genetic disorders, with the service expected to begin in early 2026.
Currently, such tests in private hospitals cost anywhere between Rs 1,000 and Rs 50,000, often equalling an entire month’s salary for an ordinary family. Apart from a few government hospitals such as AIIMS, Maulana Azad, and Lady Hardinge, most public institutions lack the machines and specialists needed to diagnose these diseases. RML’s initiative aims to bridge this critical gap.
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A proposal for the required machines has already been sent to the Ministry of Health and Family Welfare. Once the equipment arrives, company teams will provide staff training, a process expected to take about six months. The hospital will also have specialist doctors available for treatment, making it a comprehensive centre for managing such conditions.
Among the diseases to be screened are:
-Congenital Adrenal Hyperplasia: A hormonal disorder causing salt and water imbalance, premature puberty, or adrenal crisis. Tests cost Rs 8,000-50,000 privately; RML will provide them free.
-Congenital Hypothyroidism: Caused by an underactive thyroid gland, it can slow development and lead to intellectual disability. Testing costs Rs 500-1,000 in private labs.
-Galactosemia: A rare metabolic disorder preventing the body from processing galactose, leading to liver damage and feeding difficulties in infants. Private testing costs Rs 700-5,000.
-Biotinidase Deficiency: Prevents recycling of vitamin B7, leading to skin rashes, hair loss, and neurological issues. Detected via newborn screening, testing costs Rs 1,900-3,800.
-G6PD Deficiency: A condition causing rapid breakdown of red blood cells, leading to haemolytic anaemia. Tests cost Rs 500-1,500 in the private sector.
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Professor Dr Parul Goyal of the biochemistry department confirmed that the proposal for purchasing machines has been sent and added that the initiative will make rare genetic disease testing and treatment accessible to a large number of patients at no cost.
Experts note that the availability of such a facility will ensure timely detection and treatment, which is currently denied to many children due to the high costs of private testing.