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New genetic test for inherited diseases launched Last Updated : 17 Mar 2017 07:11:45 PM IST (file photo) Med Genome, a company into genomics-based research and diagnostics, on Friday announced launch of a novel genetic screening test that could give couples a better understanding of risks in passing on genetic disorders to their children.
"MedGenome has introduced cheap carrier screening tests for couples for 100, 500 and 4500 genes of relevance in our country. It will help reduce the burden of genetic disorders in India," I.C. Verma, Director of the Institute of Genetics and Genomics at Sir Ganga Ram Hospital, said in a statement.
The unique 'Claria Carrier screening test', developed in collaboration with Sir Ganga Ram Hospital, is based on the Next Generation Sequencing (NGS) technology.
The test provides vital information of "carrier" status to couples and their risks of passing down serious genetic disorders to their child and provide them reproductive options that help to prevent the birth of such babies. Based on superior NGS (Next Generation Sequencing) technology, the Claria Carrier Screening test can detect over 1,300 recessive diseases and disease-causing variations.
Over a million babies are born each year in India with genetic disorders, and 20-30 per cent of infant mortality is due to these disorders.
Some of the most common genetic disorders in India are beta-thalassemia, G6PD deficiency, cystic fibrosis, amino acid disorders, sickle cell anaemia, congenital adrenal hyperplasia, spinal muscular atrophy, growth hormone deficiency, haemophilia A mucopolysacchridosis, muscular dystrophy, and non-syndromic hearing loss etc.
"India has a heavy burden of genetic disorders, owing to our ancient population history, inbreeding, high birth rates, consanguinity and lack of awareness among people. We believe our screening test will help in creating a large impact in India and benefit a significant part of the population," said Sam Santhosh, Chairman, MedGenome.
The test has been validated by clinicians and will be available across India in about 500+ of MedGenome's partner network hospitals, the statement said.
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