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Genetic Tools: Uses and Limitations

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Dr Edwin Fernando, Chennai    28 November 2019

  • Typical human genome contains 3 billion DNA nucleotides.
  • Twenty million of these and 20,000 genes may be altered without major consequences.
  • Major challenge in genetic diagnostics-identify which variants are disease-causing mutations.
  • Most renal genetic disorders are single gene disorders and require molecular GT.
  • Accurate genetic diagnosis is essential for appropriate management and accurate prognostication of patient and for presymptomatic intervention/prevention in other family members.

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