Genetics Studies

Molecular Genetics

The molecular genetics services cover genetic diagnosis for familial inherited disorders caused by mutation of specific single genes. A variety of DNA analysis techniques are applied to identify causative mutations or to track defective genes through families.

Genetic Screening

Clinnovo offers screening services for newborns, perinatal and cancer patients for genetic disorders. The prenatal screening services cover several genetic disorders including Cystic Fibrosis, Endocrine Disorders, Metabolic Disorders (Amino Acid/Organic Acid/Fatty Acid Oxidation), Severe Combined Immunodeficiency and Hemoglobin Disorders.


Our main focus is on the biomarker discovery and development of candidate biomarkers into diagnostic tools. Biomarkers are usually protein targets in the blood that are behaving differently in a normal versus diseased person. Traditionally the protein targets in the human samples are identified/characterised using mass spectroscopy analysis or by using antibody assays for known proteins. Both these methods require significant resources as well as time. Current trend in disease biomarkers development is a technology called targeted proteomics like the Multiple Reaction Monitoring-Mass Spectrometry (MRM) and Selective Reaction Monitoring (SRM). MRM is gaining importance lately because of its capability of measuring multiple proteins with the highest sensitivity and throughput compared to the traditional spectroscopy methods. At Clinnovo's proteomics division we are specializing in protein identification and quantification using MRM and SRM from biological samples like human plasma, blood, CSF etc. The MRM multiplex assays are proven to be rapid and cost effective compared to traditional methods and can be highly multiplexed using as little as a drop of the sample, thus making it the preferred choice for biomarker research.

In addition Clinnovo Research labs is part of the prestigious Chromosome 19 proteomics consortium which has research groups from different countries in EU and China as its members. This chromosome 19 consortium is part of the HUPO (Human Proteome Organisation) and aims at mapping all the proteins in the chromosome 19. From the Indian side, Clinnovo contributes towards the proteomics data analysing and biobanking services.