Clinical and research tests for C1865370 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	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
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 Invitae United States	755	562	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
Severe combined immunodeficiency, Athabascan type, 602450, Autosomal recessive (Severe combined immunodeficiency due to DCLRE1C deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Severe combined immunodeficiency, Athabascan type, 602450, Autosomal recessive (Severe combined immunodeficiency due to DCLRE1C deficiency) (DCLRE1C 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
Severe Combined Immunodeficiency (SCID) Panel PreventionGenetics, part of Exact Sciences United States	21	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Invitae Comprehensive Carrier Screen Invitae United States	886	547	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 Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Invitae United States	177	130	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
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): DCLRE1C (Artemis) for RS-SCID or SCIDA (Full Gene Sequencing) Molecular Diagnostic Laboratory LabCorp United States	1	1	C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): DCLRE1C (Artemis) for RS-SCID or SCIDA (Known Mutation) Molecular Diagnostic Laboratory LabCorp United States	1	1	E Sequence analysis of select exons
Severe Combined Immunodeficiency/Omenn Syndrome via the DCLRE1C (ARTEMIS) Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Severe immunodeficiency with sensitivity to ionizing radiation Department of Clinical Immunology Odense University Hospital Denmark	1	1	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.