Rare Genetic Disorders
Find Genetic Clarity for Rare or Unexplained Conditions
One swab. Profound insights into rare conditions.
Rare diseases are conditions that affect a small portion of the population. A disease is considered rare when it affects fewer than 5 in 10,000 people . Despite their individual rarity, there are an estimated 6,000 to 8,000 distinct rare diseases, collectively impacting between 27 and 36 million people in the EU.
Approximately 80% of rare diseases have a genetic origin. These conditions often present complex challenges due to their diverse genetic causes, which can include single-gene mutations, structural changes in chromosomes, or mitochondrial DNA alterations. The variability in symptoms and progression among individuals with the same condition adds to the complexity, making identification and management particularly challenging
Testing Process
A simple and non-invasive buccal swab is used to collect your DNA. Testing can be performed using targeted gene panels, whole exome sequencing (WES), or whole genome sequencing (WGS), depending on the level of detail needed.
Benefits of Genetic Insights
Whether you're exploring the cause of unexplained symptoms or want to understand your genetic status, this testing offers the opportunity for greater clarity and informed decision-making.