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10.1093/ndt/gfz173 http://scihub22266oqcxt.onion/10.1093/ndt/gfz173 31738409!7834596!31738409     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=31738409&cmd=llinks): Failed to open stream: HTTP request failed! 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Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases |pdf=|usr=}}{{31738409}} gab.com Text Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases JO: Nephrol Dial Transplant http://www.kidney.de/pget.php?&tw=1&pmid=31738409 #FOAvip BACKGROUND: The clinical diagnosis of genetic renal diseases may be limited by the overlapping spectrum of manifestations between diseases or by the advancement of disease where clues to the original process are absent. The objective of this study was to determine whether genetic testing informs diagnosis and facilitates management of kidney disease patients. METHODS: We developed a comprehensive genetic testing panel (KidneySeq) to evaluate patients with various phenotypes including cystic diseases, congenital anomalies of the kidney and urinary tract (CAKUT), tubulointerstitial diseases, transport disorders and glomerular diseases. We evaluated this panel in 127 consecutive patients ranging in age from newborns to 81 years who had samples sent in for genetic testing. RESULTS: The performance of the sequencing pipeline for single-nucleotide variants was validated using CEPH (Centre de'Etude du Polymorphism) controls and for indels using Genome-in-a-Bottle. To test the reliability of the copy number variant (CNV) analysis, positive samples were re-sequenced and analyzed. For patient samples, a multidisciplinary review board interpreted genetic results in the context of clinical data. A genetic diagnosis was made in 54 (43%) patients and ranged from 54% for CAKUT, 53% for ciliopathies/tubulointerstitial diseases, 45% for transport disorders to 33% for glomerulopathies. Pathogenic and likely pathogenic variants included 46% missense, 11% nonsense, 6% splice site variants, 23% insertion-deletions and 14% CNVs. In 13 cases, the genetic result changed the clinical diagnosis. CONCLUSION: Broad genetic testing should be considered in the evaluation of renal patients as it complements other tests and provides insight into the underlying disease and its management. Twit Text FOAVip Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases ????Nephrol Dial Transplant http://www.kidney.de/pget.php?&tw=1&pmid=31738409 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=31738409 #FOAvip English Wikipedia <ref>{{Cite pmid|31738409}}</ref> Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases #MMPMID31738409 Mansilla MA; Sompallae RR; Nishimura CJ; Kwitek AE; Kimble MJ; Freese ME; Campbell CA; Smith RJ; Thomas CP Nephrol Dial Transplant 2021[Jan]; 36 (2): 295-305 PMID31738409show ga BACKGROUND: The clinical diagnosis of genetic renal diseases may be limited by the overlapping spectrum of manifestations between diseases or by the advancement of disease where clues to the original process are absent. The objective of this study was to determine whether genetic testing informs diagnosis and facilitates management of kidney disease patients. METHODS: We developed a comprehensive genetic testing panel (KidneySeq) to evaluate patients with various phenotypes including cystic diseases, congenital anomalies of the kidney and urinary tract (CAKUT), tubulointerstitial diseases, transport disorders and glomerular diseases. We evaluated this panel in 127 consecutive patients ranging in age from newborns to 81 years who had samples sent in for genetic testing. RESULTS: The performance of the sequencing pipeline for single-nucleotide variants was validated using CEPH (Centre de'Etude du Polymorphism) controls and for indels using Genome-in-a-Bottle. To test the reliability of the copy number variant (CNV) analysis, positive samples were re-sequenced and analyzed. For patient samples, a multidisciplinary review board interpreted genetic results in the context of clinical data. A genetic diagnosis was made in 54 (43%) patients and ranged from 54% for CAKUT, 53% for ciliopathies/tubulointerstitial diseases, 45% for transport disorders to 33% for glomerulopathies. Pathogenic and likely pathogenic variants included 46% missense, 11% nonsense, 6% splice site variants, 23% insertion-deletions and 14% CNVs. In 13 cases, the genetic result changed the clinical diagnosis. CONCLUSION: Broad genetic testing should be considered in the evaluation of renal patients as it complements other tests and provides insight into the underlying disease and its management. |*DNA Copy Number Variations[MESH] |*Mutation[MESH] |Adolescent[MESH] |Adult[MESH] |Aged[MESH] |Aged, 80 and over[MESH] |Biomarkers/*blood[MESH] |Child[MESH] |Child, Preschool[MESH] |Female[MESH] |Genetic Testing/*methods[MESH] |High-Throughput Nucleotide Sequencing/*methods[MESH] |Humans[MESH] |Infant[MESH] |Infant, Newborn[MESH] |Kidney Diseases/blood/*diagnosis/genetics/therapy[MESH] |Male[MESH] |Middle Aged[MESH] |Phenotype[MESH] |Reproducibility of Results[MESH]Targeted broad-based genetic testing by next-generation sequencing inf(epmc).pdf DeepDyve Pubget Overpricing