Clinical and research tests for 7516 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Expedio Hereditary Cancer Predisposition Screening Assay Kailos Genetics United States	40	31	C Sequence analysis of the entire coding region
NeXT Dx Personalis, Inc. United States	1	413	I Microsatellite instability testing (MSI) R RNA analysis C Sequence analysis of the entire coding region
XRCC2 Gene Fanconi anemia, XRCCR2 related NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
NGS Panel for Fanconi anemia BloodGenetics Spain	22	22	C Sequence analysis of the entire coding region
Tempus xT Tempus Labs, Inc. United States	2	646	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
NGS Panel for Bone Marrow failure BloodGenetics Spain	56	69	C Sequence analysis of the entire coding region
OnkoSight Advanced Breast Cancer Panel BioReference Health United States	1	50	C Sequence analysis of the entire coding region
CentoBreast Centogene AG - the Rare Disease Company Germany	58	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoCancer Centogene AG - the Rare Disease Company Germany	113	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	155	107	D Deletion/duplication analysis C Sequence analysis of the entire coding region
XRCC2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany	212	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
MayoComplete Solid Tumor Panel Mayo Clinic Laboratories Mayo Clinic United States	1	476	I Microsatellite instability testing (MSI) R RNA analysis C Sequence analysis of the entire coding region
JAX SOMASEQ The Jackson Laboratory for Genomic Medicine United States	1	517	D Deletion/duplication analysis I Microsatellite instability testing (MSI) R RNA analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Endeavor PathGroup United States	73	505	C Sequence analysis of the entire coding region
OmniSeq INSIGHT OmniSeq, Inc. United States	1	525	R RNA analysis C Sequence analysis of the entire coding region
VACTERL Association and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	123	84	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	249	155	C Sequence analysis of the entire coding region
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	266	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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: 1 to 20 of 109

Results: 1 to 20 of 109