Article
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience.
Nephron - 1 Jan 2024
Beltcheva Olga, Kamenarova Kunka, Zlatanova Galia, Mihova Kalina, Roussinov Dimitar, Kachakova Darina, Georgiev Martin, Nikolova Elena, Gaydarova Maria, Mitev Vanio, Kaneva Radka
Abstract excerpt
INTRODUCTION: In pediatric kidney patients, where clinical presentation is often not fully developed, and renal biopsy is too risky or inconclusive, it may be difficult to establish the underlying pathology. In cases such as these, genetic diagnosis may be used to guide treatment, prognosis, and counseling. Given the large number of genes involved in kidney disease, introducing next-generation sequencing with...
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