Clinical and research tests for C2752039 - 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
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CFI - 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
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Atypical Hemolytic Uremic Syndrome (aHUS) Panel Centogene AG - the Rare Disease Company Germany	23	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Macular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	66	36	D Deletion/duplication analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Complement Deficiency Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	35	22	D Deletion/duplication analysis
Invitae Atypical Hemolytic Uremic Syndrome and Thrombotic Microangiopathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	25	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hemolytic uremic syndrome, atypical, susceptibility to, 3, 612923, Autosomal dominant; AHUS3 (Atypical hemolytic-uremic syndrome) (CFI 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
Hemolytic uremic syndrome, atypical, susceptibility to, 3, 612923, Autosomal dominant; AHUS3 (Atypical hemolytic-uremic syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	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
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
CFI - transplantation Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFI - thrombotic thrombocytopenic purpura Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFI - complement nephropathy Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFI - C3-glomerulopathy Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region

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