Clinical and research tests for 3426 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CFI 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
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
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
GenepoweRx_Nephro_Care GenepoweRx Uppaluri K&H Personalized Medicine Clinic India	27	58	D Deletion/duplication analysis H Detection of homozygosity S Mutation scanning of the entire coding region T Targeted variant analysis
CFI - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	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
Invitae Macular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	66	36	D Deletion/duplication 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
C3 Glomerularopathy Genetic Panel (6 genes) (2 Day STAT TAT) Machaon Diagnostics United States	3	6	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
Complement factor I deficiency, 610984, Autosomal recessive; CFID (Immunodeficiency with factor I anomaly) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Complement factor I deficiency, 610984, Autosomal recessive; CFID (Immunodeficiency with factor I anomaly) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis

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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.