Clinical and research tests for 970 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Tempus xT Tempus AI - RTP United States	2	647	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Bcell/Antibody Deficiency GenePanel Mayo Clinic Laboratories Mayo Clinic United States	79	61	C Sequence analysis of the entire coding region
EBV/Lymphoproliferation GenePanel Mayo Clinic Laboratories Mayo Clinic United States	35	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Viral Susceptibility Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	35	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HLH Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	35	23	D Deletion/duplication analysis C Sequence analysis 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
Hemophagocytic Lymphohistiocytosis (HLH) Extended Genetic Panel (41 genes and UNC13D inversion) (2 Day STAT TAT) Machaon Diagnostics United States	7	41	E Sequence analysis of select exons
Hemophagocytic Lymphohistiocytosis (HLH) Genetic Panel (32 genes and UNC13D inversion) (2 Day STAT TAT) Machaon Diagnostics United States	7	32	E Sequence analysis of select exons
CD70 - 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
Endeavor PathGroup United States	73	505	C Sequence analysis of the entire coding region
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
Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel PreventionGenetics, part of Exact Sciences United States	29	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Immune Disorders Panel CGC Genetics Unilabs Portugal	1	385	C Sequence analysis of the entire coding region
Hereditary Cancer Panel (Complete) Mendelics Brazil	1	264	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
Hemophagocytic Lymphohistiocytosis (HLH) Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	1	36	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hemophagocytic Lymphohistocytosis (HLH) Genetic Analysis MNG Laboratories (Medical Neurogenetics, LLC.) United States	4	36	C Sequence analysis of the entire coding region
Lymphoproliferative syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	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.