OVERVIEW
There are more than 200 hereditary diseases of the connective tissue that can affect the look and growth of skin, bones, joints, heart, blood vessels, lungs, eyes, and ears. Common hereditary connective tissue disorders include: Ehlers-Danlos syndrome (loose joints, easy bruising and stretchy skin), Marfan syndrome (unusually tall and thin with long extremities), Cutis laxa (inelastic, wrinkled skin), Loeys-Dietz-syndrome (scoliosis, loose joints, easy bruising skin) and Osteogenesis imperfecta (easy breaking bones). Most of these disorders are present at birth. Connective tissue diseases can have aortic involvement leading to aneurysms or aneurysm ruptures. Early identification of individuals at risk can help establish the right clinical management plan.
We offer comprehensive and syndrome-specific panels testing for diseases of the connective tissue. The test can offer a molecular genetic diagnosis of a connective tissue disorder that is observed or predicted in you/your child or a family member.
IMPORTANCE OF GETTING TESTED
If you or a family member has a risk of a disease of the connective tissue, identifying the cause can help to take actions to improve the outcome of the disorder. Additionally, family members can be informed and encouraged to also get tested. Our genetic counsellors can provide medical advice.
You have a family history of
connective tissue diseases and want
to know if you are a carrier or
estimate the risk for your child
You/your child has a clinical diagnosis of
a connective tissue disease and
want to confirm/differentiate
You need a prophylactic aortic surgery
and want to determine
the right timing
POSSIBLE OUTCOMES OF THE TEST
A molecular genetic diagnostic report outlining the results of the sequencing analysis is provided. Changes in DNA sequences (variants) can be detrimental and lead to the development of a cardiac or aortic disorder, including asymptomatic disorders that develop later in life. We will report pathogenic and likely pathogenic variants as well as variants of unknown significance.
Pathogenic and likely pathogenic variants mean the genetic cause of the observed symptoms has been identified and may help determine the right treatment and management plan.
Variants of unknown significance means there was not enough evidence to classify the variant as either pathogenic or neutral. Annual variant reclassification and testing family members is recommended.
It is important to note that a negative result does not guarantee the absence of a disorder or that the disorder does not have a genetic cause. Genetic testing is an evolving field and may not detect all variants or there may not currently be enough evidence to classify all variants that lead to an inherited disease.
