CCMB launches high-end genetic testing method

Hyderabad-based CCMB launched a state-of-the-art very high-end next-generation genetic testing method 'Optical Genome Mapping'

Hyderabad: City-based Centre for Cellular and Molecular Biology (CCMB) has launched a state-of-the-art very high-end next-generation genetic testing method ‘Optical Genome Mapping’ (OGM) with the ability to accurately detect genomic abnormalities that cause various kinds of genetic ailments in humans.

Dubbed ‘New Generation Cytogenetics’, the Optical Genome Mapping, when compared to conventional diagnostic techniques, offers better resolution and has the ability to detect a wider range of genetic abnormalities, the researchers said.

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The OGM will be particularly useful in accurately detecting minute genetic variations that cause neuro-developmental problems such as Autism Spectrum Disorder (ASD), intellectual disability, developmental delays, seizures, attention-deficit hyperactivity disorder (ADHD), oppositional defiant disorder (ODD), chromosomal aberrations etc.

In a paper describing the advantages of OGM, published in Genetic Clinics, a quarterly publication of the Society for Indian Academy of Medical Genetics (SIAMG), CCMB researchers said OGM is increasingly being adopted by genomic laboratories across the world to detect structural variations (SVs).

Conventional cytogenetic/molecular genetics technologies, used to detect SVs such as insertions, deletions, inversions, duplications, and translocations, have several limitations and are highly dependent on the technical expertise of the personnel.

The OGM has a significantly higher resolution and can detect a wider range of variants in a single assay. “With a relatively simple workflow and automated analysis pipelines, it is less operator dependent and produces robust and reproducible results with rapid turnaround times,” they said.

In addition, OGM has been able to detect structural variations in genes, which were missed out in existing standard diagnostics. The utility of OGM is also being increasingly realised in hematological malignancies where chromosomal abnormalities play a defining role in prognostication (predicting the outcomes) of the disease.

OGM, a positive and much-needed development in the field of molecular cytogenetics, has the potential to replace conventional testing methodologies in clinical diagnostics and hopefully, wider adaptation will make the technology more affordable, they added.