Clinical and research tests for C2752036 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
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
THBD - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	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
Blood Coagulation Panel Centogene AG - the Rare Disease Company Germany	110	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant 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, 6, 612926, Autosomal dominant; AHUS6 (Atypical hemolytic-uremic syndrome) (THBD 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, 6, 612926, Autosomal dominant; AHUS6 (Atypical hemolytic-uremic syndrome) (THBD 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
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
THBD - complement-mediated kidney disease 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
THBD - C3-glomerulopathy Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
THBD - atypical hemolytic uremic syndrome (aHUS) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	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
THBD - S. Pneumoniae HUS Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	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.