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Genome sequencing

“From one test per gene to one test for all involved gene”
Next generation sequencing (NGS) is a massively parallel sequencing technology that offers ultra-high throughput, scalability and speed. The technology is used to determine the order of nucleotides in entire genomes or targeted regions of DNA or RNA.
Today’s complex genomics questions demand a depth of information beyond the capacity of traditional DNA sequencing technologies. NGS has filled that gap & become an everyday tool to address these questions.

Our Molecular and virology research and development lab (MVRDL) in SAIMS will be focusing on Pre- implantation genetic screening (PGS), Noninvasive prenatal screening (NIPT), diagnosis of cancer, whole exon sequencing, COVID-19 sequencing & de-novo genome sequencing.

  • NGS for PGS improves pregnancy outcomes compared with array comparative genomic hybridization. NGS has the ability to identify & screen for embryos and those with partial aneuploides/triploidy, pregnancy outcomes with NGS may be improved due to the exclusion of these abnormal embryos. NGS is likely going to replace other technologies as the predominant method for PGS due to lower cost & reduced errors.
  • NIPT utilizing NGS is a highly sensitive & specific approach designed to screen for fetal aneuploidy. NIPT analyzes cell-free DNA from maternal blood sample (mixture of fetal & maternal DNA) to screen for chromosomes 21,18,13, X, Y by NIPT by NGS. NIPT provides high detection rates & no risk to mother and baby.
  • Oncological (cancer) diagnosis by NGS has been adopted in clinical oncology to advance personalized treatment of cancer. NGS holds many advantages such as the ability to fully sequence all types of mutations for a large number of genes in a single test at a relatively low cost. We will be diagnosing various types of cancer by NGS like acute myeloid leukemia (AML), chronic myeloid leukemia (CML) & chronic lymphocytic leukemia (CLL) etc and will be expanding the diagnosis further for other types of cancer and we’ll be using various biomarkers for the diagnosis of cancer.
  • COVID-19 sequencing by NGS provides an effective unbiased way to identify new corona virus strains & other pathogens without prior knowledge of organism. COVID-19 sequencing by NGS tracks the transmission routes of the views globally. Detects mutations quickly to prevent the spread of new strain types. Identify viral mutations that can affect vaccine potency.
    “NGS opens the entire spectrum of genomic alterations for the genetic analysis of complex traits. Hence one tests fits for all your diagnostic needs.”