Clinical and research tests for 5293 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 74

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Hyper IgM Syndrome Panel PreventionGenetics, part of Exact Sciences United States	11	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Agammaglobulinemia Panel PreventionGenetics, part of Exact Sciences 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, part of Exact Sciences United States	14	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
ProvSeq 523 Providence St. Joseph Health Molecular Genomics Laboratory Providence St Joseph Health United States	1	523	C Sequence analysis of the entire coding region
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, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Primary Immunodeficiency Panel Baylor Genetics United States	1	463	C Sequence analysis of the entire coding region
Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States	218	300	C Sequence analysis of the entire coding region
Inborn Errors of Immunity Panel with interpretation Clinical Genomics Laboratory Washington University in St. Louis United States	8	9	C Sequence analysis of the entire coding region
PIK3CD Gene Sequencing (2 day STAT TAT) Machaon Diagnostics United States	2	1	E Sequence analysis of select exons
Infantile enterocolitis and inflammatory bowel disease monogenic (NGS panel WES based of 65 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	65	C Sequence analysis of the entire coding region
Hematological Malignancies Hereditary Panel CGC Genetics Unilabs Portugal	1	147	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

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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.

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Results: 21 to 40 of 74

Results: 21 to 40 of 74