Clinical and research tests for 115650 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Bcell/Antibody Deficiency GenePanel Mayo Clinic Laboratories Mayo Clinic United States	79	61	C Sequence analysis of the entire coding region
TNFRSF13C Gene Immunodeficiency common variable type 4 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	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
Immunodeficiency, common variable, 4, 613494, Autosomal recessive; CVID4 (Common variable immunodeficiency) (TNFRSF13C 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
Immunodeficiency, common variable, 4, 613494, Autosomal recessive; CVID4 (Common variable immunodeficiency) (TNFRSF13C 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
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Primary Antibody Deficiency Panel PreventionGenetics, part of Exact Sciences United States	50	46	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Common Variable Immune Deficiency (CVID) Panel PreventionGenetics, part of Exact Sciences United States	15	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	223	154	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	552	424	D Deletion/duplication analysis
Invitae Common Variable Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	49	36	D Deletion/duplication analysis
Primary Immunodeficiency Panel Baylor Genetics United States	1	463	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
Lymphoproliferative syndrome and differential diagnosis (WES based NGS panel for 34 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	34	C Sequence analysis of the entire coding region
Immunodeficiency, common variable, 4 (sequence analysis of TNFRSF13C 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
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant 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.