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Rare Diseases

Rare Disease Panels

Genetic Solutions for Personalized Patient Management

Approximately 80% of the nearly 8,000 rare diseases described in the literature have a genetic basis. These inherited conditions can affect not only individuals but also their families and future generations, leading to hereditary health disorders and significant clinical risks.

Tay-Sachs disease, retinoblastoma, narcolepsy, and Huntington disease are examples of rare diseases.

Orphan diseases are conditions for which diagnosis and treatment options may be limited due to their rarity. Although the terms rare disease and orphan disease are often used interchangeably, not every rare disease is considered an orphan disease. Examples of orphan diseases include Fabry disease and alveolar echinococcosis (alveolar hydatid disease).

Today, genetic testing enables the rapid and accurate molecular diagnosis of these diseases. In addition, preconception carrier screening allows couples’ genetic risks to be assessed, helping to reduce the risk of passing these conditions on to future generations.

Genetic testing can help to:

  • Identify an individual’s genetic predisposition to disease.
  • Detect disease risk or asymptomatic (silent) conditions at an early stage.
  • Support the development of personalized monitoring and treatment plans.

*For more information about our diagnostic tests, please contact us or visit our Genomic Testing section to explore our comprehensive testing portfolio.

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