Clinical and research tests for 3560 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	C Sequence analysis of the entire coding region
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
Dysregulation/Autoimmune Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	39	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ALPS Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	34	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	754	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
FusionPlex Solid Tumor Panel Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington United States	3	114	R RNA analysis
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 Agammaglobulinemia Panel Invitae United States	39	36	D Deletion/duplication analysis
Comprehensive Hematologic Cancer Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	2	215	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Comprehensive Solid Tumor Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	2	315	D Deletion/duplication analysis R RNA analysis 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
Paired Tumor/Normal - Comprehensive Hematologic Cancer Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	2	215	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Sarcoma Comprehensive NGS Fusion Panel NeoGenomics Laboratories NeoGenomics Laboratories, Inc. United States	1	97	C Sequence analysis of the entire coding region
Paired Tumor/Normal - Comprehensive Solid Tumor Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	2	315	D Deletion/duplication analysis R RNA 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.