Genetic Testing for Kidney Disorders
Inherited kidney diseases have an overall prevalence of ~6-8 in 10,000 births in the United States and Europe, and accounts for up to 37% of adults with renal diseases (Cocchi et al. 2020. PubMed ID: 32646915; Connaughton et al. 2019. PubMed ID: 30773290; Lata et al. 2018. PubMed ID: 29204651). Genetic testing for inherited kidney diseases in both pediatric populations and adults is critical for confirmation of clinical diagnosis, differential diagnosis, personalized management and treatment. (Lemaire and Parekh. 2017. PubMed ID: 29146703; Cocchi et al. 2020. PubMed ID: 32646915). It also plays an important role in improving outcomes for patients with a family history of kidney disease, even if they do not currently have any symptoms, which is why genetic testing has been increasingly integrated into clinical practice.
Genetic Testing for Kidney Disease at PreventionGenetics
We are pleased to announce our new 326 gene Comprehensive Inherited Kidney Diseases Panel. This comprehensive panel includes basically all the genes for inherited kidney diseases available at PreventionGenetics, and includes exome-wide CNV, which allows for cost-effective identification and reporting of potentially phenotype-relevant, large CNVs across the full exome, similar to those detected by chromosomal microarray (CMA).
In addition to the Comprehensive Inherited Kidney Diseases panel, PreventionGenetics also offers genetic tests for many kidney disorders. The genes associated with these syndromes are included in the Comprehensive Inherited Kidney Diseases panel, however, based on clinical features one of the smaller panels may be appropriate.
Reporting Details for Comprehensive Inherited Kidney Diseases Panel
The report for the Comprehensive Inherited Kidney Diseases panel will not include all the observed rare variants due to the large number of genes included in this panel. Pathogenic, likely pathogenic, uncertain and risk variants that are considered to contribute to the patient's phenotype will be reported. We will also report potentially phenotype-relevant exome-wide CNVs. A list of all rare variants included in this panel is available along with our interpretations upon request.
Reports will consist of two different sections:
1. Variants in genes known to be associated with the provided phenotype
2. Variants in genes possibly associated with the provided phenotype
No-Cost Genetic Testing for Fabry Disease – The AAKP Fabry Disease Diagnostic Testing and Education Project
PreventionGenetics is proud to have partnered with the American Association of Kidney Patients (AAKP) and Emory University to provide complimentary genetic testing for individuals at-risk to have Fabry disease. If Fabry disease is left untreated it can damage the kidneys and other organs. Clinical DNA testing for this rare genetic disease can help patients receive an early diagnosis and access to treatment. Learn more about this condition and AAKP’s no-cost genetic testing program for Fabry Disease. This AAKP program is supported by educational donations from Amicus Therapeutics and Sanofi-Genzyme, Inc.
Cocchi et al. 2020. PubMed ID: 32646915
Lemaire and Parekh. 2017. PubMed ID: 29146703
Connaughton et al. 2019. PubMed ID: 30773290
Lata et al. 2018. PubMed ID: 29204651