Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice
N Knoers, C Antignac, C Bergmann… - Nephrology Dialysis …, 2022 - academic.oup.com
… capacity and clinical urgency. However, for all clinical genetic testing indications we …
weeks and for urgent indications (ie prenatal and neonatal) it should not exceed 2 weeks. …
weeks and for urgent indications (ie prenatal and neonatal) it should not exceed 2 weeks. …
Tips for testing adults with suspected genetic kidney disease
J Savige - American Journal of Kidney Diseases, 2024 - Elsevier
… offered “cascade” testing. A referral to a clinical geneticist or genetic counselor helps identify
affected … , but not everyone with suspected kidney disease needs to undergo genetic testing. …
affected … , but not everyone with suspected kidney disease needs to undergo genetic testing. …
Preimplantation genetic testing for monogenic kidney disease
R Snoek, MF Stokman, KD Lichtenbelt… - Clinical Journal of the …, 2020 - journals.lww.com
… to prevent passing on (a) disease-causing mutation(s) to their offspring. Here, we provide …
clinical overview of 25 years of preimplantation genetic testing for monogenic kidney disease …
clinical overview of 25 years of preimplantation genetic testing for monogenic kidney disease …
Genetic testing for kidney disease of unknown etiology
… -line tests for detecting genetic and genomic disorders. Note that some commercial testing
… For isolated renal disease in an adult patient, we recommend ES. We recommend genome-…
… For isolated renal disease in an adult patient, we recommend ES. We recommend genome-…
Personalized medicine in chronic kidney disease by detection of monogenic mutations
DM Connaughton, F Hildebrandt - Nephrology Dialysis …, 2020 - academic.oup.com
… rapid molecular genetic diagnostics in individuals with suspected genetic kidney disease.
In an era of precision medicine, understanding the utility of genetic testing in individuals with a …
In an era of precision medicine, understanding the utility of genetic testing in individuals with a …
Insights into autosomal dominant polycystic kidney disease from genetic studies
MB Lanktree, A Haghighi, I di Bari… - Clinical journal of the …, 2021 - journals.lww.com
… we will discuss the current clinical indications for genetic testing in suspected ADPKD and
its evolving role to elucidate the genetic causes of atypical polycystic kidney disease (PKD). A …
its evolving role to elucidate the genetic causes of atypical polycystic kidney disease (PKD). A …
Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults–an update for 2020
CE Kashtan, O Gross - Pediatric Nephrology, 2021 - Springer
… chronic kidney disease is not proof of Alport syndrome. The algorithm also recommends
molecular genetic testing in patients … in a clinical environment where molecular genetic testing is …
molecular genetic testing in patients … in a clinical environment where molecular genetic testing is …
Race, genetic ancestry, and estimating kidney function in CKD
… large national study involving adults with chronic kidney disease (CKD). The purpose of our
analysis was to gain insights into the relationships among race, genetically derived ancestry, …
analysis was to gain insights into the relationships among race, genetically derived ancestry, …
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease
DP Germain, S Moiseev… - Molecular genetics & …, 2021 - Wiley Online Library
… cost of genetic testing is significant, any screening cost must … complications of Fabry disease,
such as renal failure or acute … and support genetic testing for Fabry disease, particularly in …
such as renal failure or acute … and support genetic testing for Fabry disease, particularly in …
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
… to guide genetic testing in ADTKD (Figure 8). … , clinical-grade genetic testing for MUC1 is
only performed by the Broad Institute. For these reasons, we estimate that simple clinical and …
only performed by the Broad Institute. For these reasons, we estimate that simple clinical and …