Empowering Families with Knowledge and Choices through Genetic Counseling and Testing
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Pediatric genetic counseling provides essential genetic counseling services to rare disease patients and their families. Pediatric genetic counseling is a specialist service, within genetic counseling, and it is targeted at patients ranging from newborn to teenagers.
Genetic counseling services are an integral and important part of the genetic screening, testing and diagnosis process. Anyone who is about to embark on a process involving genetic screening, analysis and testing should be referred to genetic counseling services.
Turner syndrome is a rare disease known only to affect females. The exact prevalence of the syndrome is unknown, but it is believed to occur in every 1 in every 2,000 females born. Symptoms of the syndrome include a short stature, congenital heart defects, and a failure of the reproductive issues to develop.
Trisomy 13 is caused when a person has three copies of chromosome 13 instead of the normal two. There are three types of this rare disease, each type is caused by variations in the third copy of chromosome 13. The syndrome is not usually inherited, and most usually the result of spontaneous chromosomal changes. In some cases it may be caused by an inherited chromosomal event known as translocation.
Marfan syndrome is both a connective tissue disorder, and a congenital disorder, meaning present at birth, but the full range of its symptoms do not often develop until later into childhood, or even early adulthood in some cases.
It is a rare connective tissue disorder. There are several main types of the syndrome, each varying in their severity and cause. EDS Classic/Musculocontractural Type 1 and Type 2 This is not the most common form of the syndrome. It is slightly more severe than the most common form of this rare disease, as it presents with additional symptoms, including fragile and stretchy skin, and possible heart issues. This form of the syndrome is caused by mutations in the
Angelman syndrome is a rare disease, affecting around 500,000 people around the world. It is one of the more common, of the rare diseases, occurring in around 1 in every 15,000 live births in the US. The main symptoms of the syndrome include developmental delay, sleep disturbances, and seizures.
Some adults, either prior to marriage or starting a family, will decide to undergo carrier screening, a specific type of genetic testing. Even though an adult may not show any symptoms of a rare disease, it is possible that they are carriers for a gene or chromosomal change, that can be passed onto their children who may then in turn develop a rare disease.
There are a number of reasons for why genetic testing may be recommended for a child. Generally it is not recommended, without the presence of a family history or symptoms. Family history of a rare disease If the parents of a child are carriers of a gene mutation, generally it will be recommended for a child to be tested, to understand if they are also carriers of the same mutation and at risk for passing the same mutation or to their child. In some cases, if one or more parents is a carrier for a gene mutation, a child may be at higher risk of developing a rare disease caused by this gene change. In this instance, genetic testing would be strongly recommended.