Empowering Families with Knowledge and Choices through Genetic Counseling and Testing
Complete our online AI-based assessment and receive more information on possible causes and recommendations on how to assist your child.
Genetic diagnosis refers to the process by which an individual receives a diagnosis of a rare disease or genetic syndrome. This process can include several stages, including genetic analysis, genetic counseling, and genetic testing. In some cases it may involve the ruling out of a rare disease altogether.
If there is a known history of a rare disease, or gene change, in a family. Before planning a pregnancy, or in some instances couples undergo genetic testing before getting married. After initial genetic testing has returned positive results for a gene change or rare disease marker. Due to symptoms or features, including facial features, or medical conditions, that have no known identifiable cause, and together might suggest a rare disease or genetic cause.
Genetic health testing investigates an individual’s DNA, to identify genetic mutations or chromosomal changes that might trigger a rare disease in themselves or their future offspring. Diagnosis of a rare disease or syndrome
Genetic analysis testing involves the testing of an individual’s DNA, in order to identify or isolate, specific gene or chromosomal changes that might determine an increased risk of developing a rare disease, or the presence of a rare disease.
Genetic analysis is a process by which an individual’s risk for developing a rare disease is assessed. The ultimate goal of genetic analysis is to understand more about an individual’s genetic health including whether they may be a carrier of a gene mutation, or at risk of developing a genetic syndrome themselves.
Genetic consultation is essentially a meeting between an individual who is at risk for, or has, a rare disease and a genetic counselor, or genetic expert. If the patient involved is a child, then genetic consultation will also involve their parents.
Their main role is to accompany rare disease individuals, and if relevant their families too, through the stages of a diagnosis of a rare disease. However within this role there are many specific ways in which a genetic counselor helps rare disease patients.
Genetic counseling is an integral, essential part of the genetic diagnosis process. It is a highly specialized service, and genetic counselors are responsible for guiding, supporting, and educating rare disease patients and their families throughout the entire diagnostic process.
Genetic counseling offers many different layers of support for patients and their families embarking on a rare disease diagnosis journey. Led by genetic counselors, who are both medical professionals and therapists, genetic counseling walks and guides patients through their diagnosis, from initial genetic analysis, to genetic testing, diagnosis, and beyond.