Clinical and research tests for C2749604 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 157

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hemolytic uremic syndrome, atypical, susceptibility to, 235400, Autosomal recessive, Autosomal dominant; AHUS1 (Atypical hemolytic-uremic syndrome) (CFHR1 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, 1, 235400, Autosomal recessive, Autosomal dominant (Atypical hemolytic-uremic syndrome) (CFH 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, 1, 235400, Autosomal recessive, Autosomal dominant (Atypical hemolytic-uremic syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hemolytic uremic syndrome, atypical, susceptibility to, 235400, Autosomal recessive, Autosomal dominant; AHUS1 (Atypical hemolytic-uremic syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hemolytic uremic syndrome, atypical, susceptibility to, 235400, Autosomal recessive, Autosomal dominant; AHUS1 (Atypical hemolytic-uremic syndrome) (CFHR1 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
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
CFHR3 - transplantation 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
CFHR4 - membranoproliferative glomerulonephritis Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	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
CFHR4 - thrombotic thrombocytopenic purpura Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFHR3 - membranoproliferative glomerulonephritis Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFHR4 - C3-glomerulonephritis 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
CFH operon - transplantation (MLPA) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	D Deletion/duplication analysis
CFHR2 - membranoproliferative glomerulonephritis Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFHR4 - atypical hemolytic uremic syndrome (aHUS) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 157

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.