Clinical and research tests for C3714976 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
EBV/Lymphoproliferation GenePanel Mayo Clinic Laboratories Mayo Clinic United States	35	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ALPS Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	35	26	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
Invitae Hereditary Lymphoma Panel Invitae United States	85	43	D Deletion/duplication analysis
Invitae Congenital Diarrhea Panel Invitae United States	121	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Diarrhea and Enteropathies Panel PreventionGenetics 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 United States	50	46	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hyper IgM Syndrome Panel PreventionGenetics United States	11	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Agammaglobulinemia Panel PreventionGenetics United States	12	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autoimmune Lymphoproliferative Syndrome/ALPS Panel PreventionGenetics United States	14	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel Invitae United States	22	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hyper IgM Syndrome Panel Invitae United States	8	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Invitae United States	223	154	D Deletion/duplication analysis
Invitae Monogenic Inflammatory Bowel Disease Panel Invitae United States	108	67	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
Hereditary Lymphoid/Immunodeficiency Predisposition Panel Genetic Services Laboratory University of Chicago United States	27	66	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Immunodeficiency via the PIK3CD Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Activated PI3K-Delta Syndrome (PIK3CD Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis 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

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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.