Ciliopathies result from dysfunction of cilia, a cell organelle that plays a role in many signaling pathways. Those pathways are important for organ development, maintenance of tissue homeostasis and fundamental developmental processes. Numerous proteins and thus genes are involved in the construction of cilia, which explains the clinical and genetic heterogeneity and overlapping phenotypes of the various disorders. Many organs can be affected in ciliopathies, common features are cystic liver and/or kidney disease, blindness, neural tube defects, brain anomalies and intellectual disability, skeletal abnormalities ranging from polydactyly to abnormally short ribs and limbs, ectodermal defects, obesity, situs inversus, infertility, and recurrent respiratory tract infections. Early identification of individuals at risk can help establish the right clinical management plan.
We offer comprehensive and syndrome-specific panels testing for ciliopathies. The test can offer a molecular genetic diagnosis of a ciliopathies that is observed or predicted in your child or a family member.
IMPORTANCE OF GETTING TESTED
If you or a family member has a risk of a ciliopathy, 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 child with heart/kidney/
skeletal/brain disorder and
want to confirm a diagnosis
You have a clinical diagnosis
of a ciliopathy and need
a differential diagnosis
You want to estimate
the risk of recurrence
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.