Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Check Clinical features section (below), Conditions for which test is
offered (above), and links on the right for additional information about this
condition.
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary renal disease.
Establishing a diagnosis for a variety of hereditary renal conditions including focal segmental glomerulosclerosis (FSGS), nephritic/nephrotic syndrome, Alport syndrome, cystic kidney diseases (including polycystic kidney disease), nephronophthisis, tubulointerstitial disease, congenital anomalies of kidney and urinary tract (CAKUT), nephrocalcinosis, nephrolithiasis (kidney stones), renal electrolyte imbalances (including Bartter syndrome), C3 glomerulopathy (C3G), and complement-mediated thrombotic microangiopathy (also known as atypical hemolytic uremic syndrome, aHUS)
- APOL1 risk variants, race, and progression of chronic kidney disease. - PubMed ID:
24206458
- Genetic variants in C5 and poor response to eculizumab. - PubMed ID:
24521109
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. - PubMed ID:
25741868
- Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome. - PubMed ID:
26163426
- Genetic Disorders of the Glomerular Filtration Barrier. - PubMed ID:
32205319
- Inherited Tubulopathies of the Kidney: Insights from Genetics. - PubMed ID:
32238367
- Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract. - PubMed ID:
32312792
- Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies. - PubMed ID:
32690722
- Inherited Kidney Complement Diseases. - PubMed ID:
33536243
- Genetic Basis of Type IV Collagen Disorders of the Kidney. - PubMed ID:
33849932
Not provided
Establish or confirm diagnosis
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