Clinical and research tests for 727 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
C5 Gene C5 deficiency 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
TMA-Complete Genetic Panel 3.0 Machaon Diagnostics United States	6	24	E Sequence analysis of select exons
C5 - 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
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
C5 deficiency, 609536 (Immunodeficiency due to a late component of complement deficiency) (C5 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
C5 deficiency, 609536 (Immunodeficiency due to a late component of complement deficiency) (C5 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
[Eculizumab, poor response to], 615749, Autosomal dominant (C5 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
C5 - C5 deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	603	446	D Deletion/duplication analysis
Primary Immunodeficiency Panel Baylor Genetics United States	1	463	C Sequence analysis of the entire coding region
Immunodeficiencies - complement deficiencies (WES based NGS panel of 33 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	33	C Sequence analysis of the entire coding region
Immune Disorders Panel CGC Genetics Unilabs Portugal	1	385	C Sequence analysis of the entire coding region
Complement deficiencies (sequence analysis of C5 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Immunodeficiencies and Immunologic Diseases Panel (Complete) Mendelics Brazil	1	397	C Sequence analysis of the entire coding region
Plugin system clutter panel. NGS panel of 75 genes. Genologica Medica Spain	76	75	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.