Clinical and research tests for C3150740 - 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
MS4A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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 Invitae United States	755	562	D Deletion/duplication analysis
Immunodeficiency, common variable, 5, 613495, Autosomal recessive; CVID5 (Common variable immunodeficiency) (MS4A1 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, 5, 613495, Autosomal recessive; CVID5 (Common variable immunodeficiency) (MS4A1 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 Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Invitae Common Variable Immunodeficiency Panel Invitae United States	49	36	D Deletion/duplication analysis
Immunodeficiency, common variable: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	13	13	C Sequence analysis of the entire coding region
Primary Antibody Deficiency NGS Panel Fulgent Genetics United States	102	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Reference Laboratory Genetics Spain	43	41	C Sequence analysis of the entire coding region
COMMON VARIABLE IMMUNODEFICIENCY DUE TO AN INTRINSIC T-CELL DEFECT Laboratorio de Genetica Clinica SL Spain	2	2	C Sequence analysis of the entire coding region
MS4A1 Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	33	30	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
MS4A1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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