A new test from Washington University\u2019s Genomic Pathology Services will help physicians quickly zero in on genetic mutations that may be contributing to kidney disease.
\nMany kidney disorders are difficult to diagnose. To address this problem, scientists and clinicians have developed a diagnostic test that identifies genetic changes linked to inherited kidney disorders. This testing is now available nationwide through Genomic Pathology Services (GPS) at Washington University School of Medicine in St. Louis.<\/p>\n
\u201cFor many kidney diseases, diagnosis can be an odyssey in which you sequence one gene after another over a long period of time to learn what\u2019s going wrong and what the best options are for treatment,\u201d said GPS chief medical officer and Washington University pathologist Jonathan Heusel, MD, PhD. \u201cIt makes more sense to screen all the possible contributing genes at once with a single test and consider options for treatment.\u201d
\nTo make this possible, the GPS team developed the test with kidney disease specialists, including Joseph Gaut, MD, PhD, a renal pathologist. <\/p>\n
The test employs next-generation sequencing technology to decode genes associated with kidney disease. Using software developed at the university, clinical genomics specialists analyse and interpret the observed genetic alterations to identify disease-related genetic changes, or variants. They then must determine whether a given variant poses clinical risks based on available medical knowledge.<\/p>\n
\u201cThe variants have to be evaluated on a case-by-case basis, which can be time-consuming and labour-intensive,\u201d Heusel said.<\/p>\n
GPS continues to update the kidney test as new links between kidney problems and DNA are identified.<\/p>\n
\u201cWe stay abreast of the literature, and as new genes become clinically meaningful, we will incorporate those into the test,\u201d said Catherine Cottrell, PhD, medical director for GPS.<\/p>\n
The kidney test will check for:
\n\u2022 Alport syndrome, which is characterized by progressive loss of kidney function, hearing loss and eye abnormalities;
\n\u2022 Nephrotic syndrome, which includes symptoms such as protein in the urine, low blood-protein levels, high levels of cholesterol and triglycerides, and swelling;
\n\u2022 Metabolic disorders associated with renal disease and including other systemic abnormalities such as diabetes, amyloidosis and others;
\n\u2022 Complement (immune system) defects related to kidney disease, including atypical hemolytic uremic syndrome.\nWashington University<\/link>\n","protected":false},"excerpt":{"rendered":"
A new test from Washington University\u2019s Genomic Pathology Services will help physicians quickly zero in on genetic mutations that may be contributing to kidney disease. Many kidney disorders are difficult to diagnose. To address this problem, scientists and clinicians have developed a diagnostic test that identifies genetic changes linked to inherited kidney disorders. This testing […]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[35],"tags":[],"_links":{"self":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1449"}],"collection":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/comments?post=1449"}],"version-history":[{"count":0,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1449\/revisions"}],"wp:attachment":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/media?parent=1449"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/categories?post=1449"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/tags?post=1449"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}