OVERVIEW
The genetic causes of hereditary renal/kidney diseases are diverse, with a wide variety of clinical and genetic heterogeneity. Congenital abnormalities of the kidneys and urinary tract (CAKUT) are the main cause of chronic renal failure in newborns and children. CAKUT comprises a wide spectrum of structural and functional malformations leading to a defective morphogenesis of the kidneys and/or the urinary tract. Polycystic kidney disease manifests in utero or at birth and is associated with a shortened life expectancy. The kidney phenotype includes bilateral renal enlargement and impairment of renal function and congenital liver fibrosis. Nephrotic syndrome (NS) is associated with a dysfunction of the glomerular filter of the kidneys, leading to excessive loss of plasma proteins. NS is characterized by high proteinuria and hypalbuminemia which can occur in childhood or in adult in the context of other underlying diseases such as immunological systemic diseases, metabolic diseases, chronic infections or intoxications. Alport syndrome is a progressive hereditary nephropathy. Clinical signs are proteinuria and hematuria, but patients develop terminal renal failure as the disease progresses. In addition, non-renal manifestations such as early onset of hearing loss and ocular changes are observed. Early identification of individuals at risk can help establish the right clinical management plan.
We offer comprehensive and syndrome-specific panels testing for renal diseases. The test can offer a molecular genetic diagnosis of a renal disorder that is observed or predicted in you or a family member.
IMPORTANCE OF GETTING TESTED
If you or a family member has a risk of a renal disease, identifying the cause can help you 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 renal diseases
You want to estimate the risk of
passing the disease to your child
You have a clinical diagnosis
and want to confirm
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.
