Clinical and research tests for 176941 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hyper-IgE Syndrome Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	32	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TYK2 Gene Tyrosine kinase 2 deficiency NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
TYK2 Gene Immunodeficiency type 35 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
FoundationOne® Heme Foundation Medicine, Inc. United States	2	405	D Deletion/duplication analysis R RNA analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
TYK2 - 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
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Hematologic Cancer Fusion Analysis Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States	1	147	R RNA analysis
Hematological Malignancy Fusion Panel Laboratory for Molecular Pediatric Pathology Boston Children's Hospital United States	8	71	R RNA analysis
Mendelian Susceptibility to Mycobacterial Disease Panel PreventionGenetics, part of Exact Sciences United States	29	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GTC-Hematology Profile Plus Fusion/Expression (DNA and RNA) Genomic Testing Cooperative, LCA United States	1	254	R RNA analysis C Sequence analysis of the entire coding region
FusionPlex Pan-Heme Panel Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington United States	6	49	R RNA analysis
FusionPlex Solid Tumor Panel Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington United States	3	114	R RNA analysis
Immunodeficiency 35, 611521, Autosomal recessive; IMD35 (Susceptibility to infection due to TYK2 deficiency) (TYK2 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 35, 611521, Autosomal recessive; IMD35 (Susceptibility to infection due to TYK2 deficiency) (TYK2 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
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Invitae Hyper IgE Syndrome Panel Invitae United States	16	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TYK2 Deficiency via the TYK2 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
Hyper IgE Syndrome Panel PreventionGenetics, part of Exact Sciences United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant 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

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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.