Clinical and research tests for C4225277 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 16 of 16

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
NFKB1 - 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
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany	212	212	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, 12, 616576, Autosomal dominant; CVID12 (Common variable immunodeficiency) (NFKB1 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, 12, 616576, Autosomal dominant; CVID12 (Common variable immunodeficiency) (NFKB1 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
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 Invitae United States	223	154	D Deletion/duplication 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
NFKB1 Gene Sequencing (2 day STAT TAT) Machaon Diagnostics United States	1	1	E Sequence analysis of select exons
Humoral dysfunction panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	25	25	C Sequence analysis of the entire coding region
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
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

Results: 1 to 16 of 16

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