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Humans, including every other organism, have a genome encoded by deoxyribonucleic acid (DNA) that contains all of the biological information needed to build and maintain a living example of that organism. DNA is essentially made of four kinds of molecules, called bases. The bases are arranged in a sequential order to form a unit known as gene. The triplet of bases in the gene encode for amino acids that are building blocks of proteins that carry out most of the cellular activities.
A change/mutation in the base-pair sequence of the gene(s) could indicate that either certain proteins are not formed or are processed differently, which may result in disease.
Measuring the mutation in the genes could tell us the risk (predisposition) of getting a particular disease in his/her lifetime. Disease risk is one way of describing the likelihood of a person developing a particular disease.
Avesthagen will use Affymetrix technology to decipher the association between single nucleotide polymorphisms (SNPs)/ mutation and predisposition to the disease. The DNA chip used by Avesthagen for whole genome scanning features more than 1.8 million markers of genetic variation that include SNPs as well as probes for copy number variation (CNV).
A whole genome scan of an individual would provide information to understand his/her own genetic make-up that would lead to an increased awareness about the predisposition to a disease(s). The diseases, which are offered by Avesthagen, include major types of cancer, cardiovascular diseases, diabetes, schizophrenia, Alzheimer"s, asthma, anemia, arthritis and others. The technology platform at Avesthagen is able to interrogate the genetic markers (SNPs and CNVs) across an individual"s genome to decipher the association of the markers to the diseases.
By employing a streamlined sample collection and delivery system, Indian customers will now have access to personalized genomics services, which until now were only available in the developed markets. Avesthagen will leverage its expertise in genomics technology and state-of-the-art high throughput facilities for carrying out genomic analysis. The facility can process 200 samples per month.
The whole genome scan will be carried out on DNA extracted from saliva / buccal swab provided by the individual. The total cost of the Whole Genome Scan will be Rs.45,000/- which is subject to revision based on volume.