We then examine the potential medical indications for genetic testing, with special attention to autosomal dominant polycystic kidney disease (ADPKD). Because clinicians will be faced with patients considering genetic testing, we review the ethical considerations regarding genetic testing for renal diseases...
40 patients were still genetically undiagnosed or diagnosed without single-nucleotide resolution after testing with a short-read sequencing panel in 312 patients with ADPKD phenotype. A combination of long-range PCR and long-read sequencing approach for PKD1 was performed on these 40 patients. LRS ad...
Thirty-six of the respondents (13.6~) had the clients who were now waiting for the latest information on the disease and advances in molecular genetics. Forty-seven physicians (17.7~) were against prenatal testing of the fetus, either because they did not consider ADPKD to be a critical ...
In this study, we performed WES testing on two ADPKD families in China to clarify the etiology of patients in these families and provide genetic counseling and fertility guidance strategies for them. 2. Case presentation Case 1: Proband 1 is a 30-year-old married man with asthenospermia who...
To correct for multiple testing, a Bonferroni correction for the number of independent variants (estimated using a pruning procedure of our data; r2 < 0.2, window size 50 bp, offset 5 bp) after QC was used [91]. The pruning estimated 47 independent variants for the mitochondrial chromoso...
Rossetti S, Chauveau D, Walker D et al. A complete mutation screen of the ADPKD genes by DHPLC. Kidney Int. 2002;61:1588–99. ArticlePubMedCASGoogle Scholar European Polycystic Kidney Disease Consortium. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplic...
For some of these diseases with severe phenotypes leading to a high mortality rate in utero or during the perinatal period, a prenatal diagnosis is possible in the presence of pathognomonic ultrasonographic signs in conjunction with α-fetoprotein testing of the amniotic fluid and DNA testing of ...
Clinical features poorly predicted ADTKD-UMOD, highlighting the need for genetic testing guided by family history alone. 展开▼ 机译:由UMOD基因(ADTKD-UMOD)突变引起的常染色体显性肾小管间质性肾脏疾病(ADTKD)被认为是罕见的,并且经常未被发现。我们旨在确定成人慢性肾脏病(CKD)患者中遗传性肾脏疾病,...
Patient Experience with Genetic Testing in ADPKDdoi:10.1681/ASN.2024c87bewxvDiana EtwaruYing GaoMeyeon ParkAmerican Society of NephrologyJournal of the American Society of Nephrology
By illustrating vast genetic heterogeneity, this study demonstrates the value of genetic testing in a real-world PKD cohort by diagnostic verification, falsification, and disease prediction. In the era of specific treatment for fast progressive ADPKD, genetic confirmation should form the basis of person...