Clinical and research tests for 3080 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MLPA (CFH-CFHR5) a la carte Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	7	6	D Deletion/duplication analysis
CFHR2 Gene Hemolytic uremic syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Comprehensive Nephrology Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	299	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Atypical Hemolytic Uremic Syndrome (aHUS)/Thrombotic Microangiopathy (TMA) /Complement 3 Glomerulopathy (C3G) Gene Panel, Varies Mayo Clinic Laboratories Mayo Clinic United States	5	15	C Sequence analysis of the entire coding region
CFH region Deletion/Duplication by MLPA (2 Day STAT TAT) Machaon Diagnostics United States	1	5	D Deletion/duplication analysis
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
TMA-Complete Genetic Panel 3.0 Machaon Diagnostics United States	6	24	E Sequence analysis of select exons
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
Atypical hemolytic uremic syndrome susceptibility and related disorders Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Atypical hemolytic uremic syndrome susceptibility and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	13	C Sequence analysis of the entire coding region T Targeted variant 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
CFHR2 - thrombotic thrombocytopenic purpura Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFHR2 - C3-glomerulopathy Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFHR2 - membranoproliferative glomerulonephritis Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFHR2 - atypical hemolytic uremic syndrome (aHUS) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFHR2 - S. Pneumoniae HUS Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
panel Dense Deposit Disease (CFHR1, CFHR2, CFHR3, CFHR4, THBD, DGKE) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	3	6	C Sequence analysis of the entire coding region
panel Membranoproliferative Glomerulonephritis (CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, THBD, DGKE) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	4	7	C Sequence analysis of the entire coding region
panel C3-Glomerulonephritis (CFHR1, CFHR2, CFHR3, CFHR4, THBD, DGKE) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	3	6	C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.