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Genetic diagnosis for rare disease is a process, sometimes also referred to as a diagnostic journey. The aim of the process is to find answers for patients, either about their genetic health, their risk for developing a rare disease, or which specific rare disease they might be at risk for.
DNA diagnosis, or genetic testing, is a form of screening which can identify changes or mutations in an individual’s gene that may in turn cause a rare disease or genetic syndrome. DNA, or deoxyribonucleic acid, is a molecule found within all of the body’s genes. DNA contains instructions for each of our cells to do what it is they need to do, in order to help our body develop, live and grow. DNA carries inherited information from both parents, and affects many parts of the body, from how vital organs work, to physical features such as hair color and height.
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 screening involves testing to identify changes in an individual’s genetic makeup. This might be identifying a gene or chromosomal change that might cause a rare disease, or a gene change that might make them the carrier.
There are several prenatal genetic tests that can help parents understand more about their child’s genetic health before they are born. Parents also have the option of carrier testing, either before or during a pregnancy, which will reveal whether the parents are themselves carriers of a specific gene or DNA mutation that might cause their child to be born with a specific genetic syndrome or not (depending on the particular gene mutation, and the mode of inheritance of the syndrome involved). Carrier genetic testing can identify syndromes such as Fragile X, Tay Sachs, and Cystic Fibrosis.