Clinical and research tests for 3075 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 153

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Basal laminar drusen, 126700, Autosomal dominant (Familial drusen) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Basal laminar drusen, 126700, Autosomal dominant (Familial drusen) (CFH 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
Complement factor H deficiency, 609814, Autosomal recessive, Autosomal dominant; CFHD (Immunodeficiency with factor H anomaly) (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
Complement factor H deficiency, 609814, Autosomal recessive, Autosomal dominant; CFHD (Immunodeficiency with factor H anomaly) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Complement factor H deficiency, 609814, Autosomal recessive, Autosomal dominant; CFHD (Immunodeficiency with factor H anomaly) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Complement factor H deficiency, 609814, Autosomal recessive, Autosomal dominant; CFHD (Immunodeficiency with factor H anomaly) (CFH 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) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400, Autosomal recessive, Autosomal dominant (Atypical hemolytic-uremic syndrome) (CFH 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
Macular degeneration, age-related, 4, 610698; ARMD4 (CFH 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
Macular degeneration, age-related, 4, 610698; ARMD4 (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

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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.