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ExomeKaryo

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  • Nov 08, 2013

THE GENETIC INFORMATION IN YOUR HANDS

  • Next Generation Sequencing provides a rapid, high-throughput and cost-effective approach to read the genetic information in our cells1,#
  • Exome sequencing reports genetic alterations on all ~23.500 human genes and more specifically on their coding DNA sequence (~180.000 exons)2
  • 85% of the mutations linked with genetic diseases are located on exome 3
  • KARYO is a pioneer on EXOME ANALYSIS4

UNIQUE POWER IN GENETIC PREDISPOSITION INVESTIGATION

Based on your exome results, KARYO offers a comprehensive analysis report on your predisposition for the major health concerns of our times. We also provide tailored analysis for complex and rare diseases running in your family.

Disease

Number of implicated genes*

Cancer predisposition

>350 genes

Cardiovascular disease predisposition

~56 genes

Hereditary Breast and Ovarian Cancer

~40 genes

Hereditary Neurological diseases

~172 genes

Your specific concern

 

#The exome analysis cost is equivalent to Sanger sequencing analysis of 1-2 average sized genes

*Exome analysis will report on the full range of human genes

  1. Stower Η. The exome factor. Genome Biology, 12:407, 2011.
  2. Ng S.B. et al. Exome sequencing identifies the cause of a mendelian disorder. Nature Genetics, 42: 30-35, 2010.
  3. Choi M. et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. PNAS, 106: 19096–19101, 2009.
  4. Kosmidis E.K. et al., Exome analysis in breast cancer patients with family history tested negative for BRCA1&2 deleterious mutations. 19th Hellenic Society of Medical Oncology Conference, Athens, April 2013.