In 1993, a groundbreaking advancement in genetic testing transformed the way individuals at risk could determine their likelihood of developing Huntington’s disease. This biochemical testing method enables those with a family history of Huntington’s to discover whether they carry the mutated gene and may eventually develop symptoms. The process involves extracting DNA from a blood sample and quantifying the amount of mutated protein in the Huntingtin gene. 

It’s crucial to note that while a positive genetic testing report confirms the presence of the mutated gene, it does not predict the onset or severity of symptoms due to the complex nature of Huntington’s disease. There are four main categories of genetic testing tailored to individuals or families at different stages of their Huntington’s journey: 

• Presymptomatic Testing or Predictive Testing: Conducted in asymptomatic individuals at risk based on family history. 
• Diagnostic or Confirmatory Testing: Aimed at confirming the presence of the mutated HTT gene in individuals exhibiting symptoms similar to Huntington’s disease. 
• Prenatal Testing: Offered to couples at risk of passing on the mutated gene to their offspring, typically performed around 11-13 weeks of pregnancy. 
• Prenatal Screening with In Vitro Fertilization (IVF): Involves screening embryos for the faulty gene and implanting non-mutation carrying embryos through IVF.