Tuberous sclerosis complex (TSC) is a genetic condition. Learn what causes it, and how it is diagnosed and treated.
Skeletal dysplasia is a term used to describe a group of genetic conditions that cause abnormal formation of bone and cartilage. Growth and other bodily functions may also be affected.
An overview of the causes, symptoms and complications of Turner syndrome.
Discover why you or your child may have been referred for a genetics appointment and what to expect when you see a geneticist and/or a genetic counsellor.
Wilson disease is a genetic disorder that allows copper to build up in the body. Learn about how it is diagnosed and treated.
Information for parents about trisomy 13, a rare genetic condition that causes developmental delay and affects many different organ systems.
Information for parents about trisomy 18, a rare genetic condition that causes developmental delay and affects many different organ systems.
Amenorrhea is the prolonged absence of a menstrual period. Learn about amenorrhea, possible causes and how it can be treated.
Learn what blood clots are, how they form, how they are treated, and complications that can occur because of them.
Neuroinflammatory disorders are conditions in which inflammation affects the central nervous system (the brain, spinal cord, and/or optic nerves).
Parents can learn about chronic graft-versus-host disease, a possible late effect that occurs after a child's blood and marrow transplant.
Learn how child life specialists can help during your child's blood and marrow transplant/cellular therapy.
Learn about your child's care at home, after a blood and marrow transplant.
Learn about blood and marrow transplants, for a child with an immune deficiency.
Learn how dietitians help during your child's blood and marrow transplant (BMT).
Deciding about a blood and marrow transplant (BMT) is a difficult decision to make. Parents can learn some tips that may help.
Genome-wide sequencing refers to two genetic tests, whole exome sequencing and whole genome sequencing, that allow health-care providers to look broadly at your child’s DNA.
Learn about the various health specialties and medications that have established pharmacogenetic (PGx) guidelines to help inform medication prescribing and treatment decisions for your child.
22q11DS is a genetic condition with a wide range of symptoms. Learn about some of the more common medical features of 22q11DS.
Pharmacogenetics is an example of precision medicine that uses a person’s genetic make-up to predict medication response.
Learn the answers to frequently asked questions about pharmacogenetics.
Learn about HLAs, a group of genes tested through pharmacogenetic testing to predict an individual’s response to certain medications.
Learn about NUDT15, a gene tested through pharmacogenetic testing to predict an individual’s response to certain medications.
Learn about CYP3A5, a gene tested through pharmacogenetic testing to predict an individual’s response to certain medications.
Learn about SLCO1B1, a gene tested through pharmacogenetic testing to predict an individual’s response to statins (medications that help lower cholesterol).
