Exome sequencing is Next Generation Sequencing (NGS) based test designed to provide a molecular genetic diagnosis of inherited diseases/disorders & complex phenotype whose genetic etiology is unknown. In this panel we identify the molecular basis of rare genetic disorders in individuals who are either carriers of the disease or manifest symptoms at a sequencing depth of >100x. Exome sequencing is targeted DNA sequencing where the exonic regions are captured and sequenced.
Genes2Me offers Clinical Exome Sequencing test for known inherited disorders which covers all exons for ~8500 genes associated with various diseases. Clinical Exome Sequencing covers all clinically relevant regions including disease specific hotspot regions at a sequencing depth of >100x.
Genes2Me offers an Extended Exome Sequencing test for known inherited disorders which covers all exons for ~19K genes associated with various diseases.
For several patients the combination of symptoms does not allow suspecting specific single genetic causes with a high certainty. Genes2Me Whole Exome Sequencing test provides information of all protein coding exons as well as UTRs across the genome (~22,000 genes) with deep coverage of Refseq, Ensembl, CCDS databases genes related to disease.
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