Clinical and research tests for C2752038 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Genetic Renal Panel v8 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	21	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
CFB - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Complement Deficiency Disorders Panel Invitae United States	35	22	D Deletion/duplication analysis
Invitae Atypical Hemolytic Uremic Syndrome and Thrombotic Microangiopathies Panel Invitae United States	25	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924, Autosomal dominant; AHUS4 (Atypical hemolytic-uremic syndrome) (CFB gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924, Autosomal dominant; AHUS4 (Atypical hemolytic-uremic syndrome) (CFB gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
panel TTP (CFH, CFI, CFB, C3, MCP (CD46), MLPA CFH operon, ADAMTS13) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	6	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
panel Membranoproliferative Glomerulonephritis (CFH,CFI,CFB,C3,MCP(CD46),MLPA CFH operon,CFHR5) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	6	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CFB - membranoproliferative glomerulonephritis Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
panel Complement-Mediated Kidney Disease (CFH, CFI, CFB, C3, MCP (CD46), MLPA CFH operon) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	5	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
panel S. Pneumoniae HUS (CFH, CFI, CFB, C3, MCP (CD46), MLPA CFH operon) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	5	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CFB - C3-glomerulopathy Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFB - STEC-HUS Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFB - transplantation Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFB - complement nephropathy Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFB - atypical hemolytic uremic syndrome (aHUS) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
panel Transplantation (CFH, CFI, CFB, C3, MCP (CD46), MLPA CFH operon) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	5	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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