Clinical and research tests for 3078 - 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
CFHR1 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
CFHR1 - MLPA Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis
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
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
Hemolytic uremic syndrome, atypical, susceptibility to, 235400, Autosomal recessive, Autosomal dominant; AHUS1 (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) (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, 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
Macular degeneration, age-related, reduced risk of, 603075, Autosomal dominant (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
Macular degeneration, age-related, reduced risk of, 603075, Autosomal dominant (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	527	338	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.