Most essential DNA coding for genetic information in humans is located at the nucleus of the cells. Genetic information is coded in a sequence of A, G, C, T nucleotides, and in human DNA there are approximately 3 billion sequences making up the genetic information.
Hereditary diseases are caused by a complete or partial change in these genetic sequences. The changes can be a mutation in one or multiple genes, mutation combined with environmental factors, or abnormalities in the number and structure of the chromosome.
There are approximately 7,000 types of rare diseases, with around 80% of them being hereditary and 50% affecting children. About 30% of patients with rare diseases may die before the age of 5. Accurate genetic diagnosis is essential for rare disease patients to receive appropriate treatment and management. Through GC Genome’s rare disease testing, we can find the possible cause (genetic variants).