Mystery Diagnosis of Rare Diseases

Almost 2-4% of people have a rare disease. Children between the ages of 3 and 5 are the most affected. Whole genome sequencing is a promising alternative for the management of rare diseases because it can provide a mystery diagnosis for many conditions. This is because 80% of rare diseases are genetic in origin. Genome sequencing has a diagnosis rate of 62.5% and can be utilised for research into rare and undiagnosed diseases to identify causal variants of inherited disorders.

  • Mystery illness program
  • Rarity of the condition or disease

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