Genetic counselling helps people understand genetic or inherited disorders. It can help families learn about neurofibromatosis type 1 (NF1) and decide if testing is right for them.
Genetic counselling is a process that provides information and support to individuals and families at risk of, or with, a genetic condition.
Understanding your child's cleft lip and/or palate through genetic assessments.
Neurofibromatosis type 1 (NF1) is a skin condition that causes growths on nerves. Find out what NF1 genetic testing is, what the test results mean and why to consider testing for it.
Congenital myasthenic syndrome (CMS) is caused by genetic mutations that cause problems with nerve-to-muscle communication leading to muscle weakness and fatigue.
Information for parents about hereditary multiple osteochondromas (previously called hereditary multiple exostoses), a genetic condition that causes growths (bumps) on the bones.
Genetics can play an important role in your family's health. Learn more about genetics; genetic counselling, screening, and diagnosis; different genetic conditions; and how genetics relate to understanding and managing overall health.
Myotonic dystrophy type 1 (DM1) disease is a genetic disorder that causes muscle stiffness, that over time causes the muscles to become weaker and smaller.
Learn about clinical and genetic testing, two ways that doctors diagnose Neurofibromatosis Type 1 (NF1). Each of these methods has advantages and limits.
Information for parents about trisomy 18, a rare genetic condition that causes developmental delay and affects many different organ systems.
Noonan syndrome is a genetic condition. Learn about the symptoms and diagnosis of Noonan syndrome and the heart conditions associated with the condition.
Learn about VKORC1, a gene tested through pharmacogenetic testing to predict an individual’s response to certain medications.
Information for parents about trisomy 13, a rare genetic condition that causes developmental delay and affects many different organ systems.
Charcot-Marie-Tooth (CMT) is a genetic disease that affects the nerves that connect the spinal cord to the muscles and sensory receptors in the body, leading to muscle wasting, loss of sensation and challenges with balance and coordination.
Pharmacogenetics is an example of precision medicine that uses a person’s genetic make-up to predict medication response.
Learn about the genetic neuromuscular disorder called Friedreich ataxia (FRDA).
Information for parents about infantile osteopetrosis, a rare genetic condition that may cause fractures, short stature (height), recurrent infections, hearing loss and vision problems.
Learn about facioscapulohumeral muscular dystrophy (FSHD) disease, a genetic condition that leads to progressive muscle weakness and loss of muscle bulk mostly affecting the facial, shoulder and upper arm muscles.
Information about campomelic dysplasia, a genetic condition that affects the development of the skeleton and reproductive system.
Cleidocranial dysplasia is a genetic disorder that affects the development of bones and teeth. Learn what to expect with a diagnosis of CCD.
Read about the causes, symptoms and treatments for epileptic encephalopathies and progressive syndromes.
A microarray is a genetic test that can detect small missing or extra pieces of chromosomes. It can help identify the underlying cause of your child’s medical condition.
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.
Information about cartilage-hair hypoplasia, a genetic condition that may cause short stature (height), shorter arms and legs than expected, fine, sparse hair and problems with blood and the immune system.
