Clinical and research tests for 5163 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Tempus xT Tempus Labs, Inc. United States	2	646	I Microsatellite instability testing (MSI) 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
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
GTC-Solid Tumor Profile Plus Fusion/Expression (DNA and RNA) Genomic Testing Cooperative, LCA United States	1	434	R RNA analysis C Sequence analysis of the entire coding region
GTC-Solid Tumor Profile Genomic Testing Cooperative, LCA United States	1	434	C Sequence analysis of the entire coding region
WES mitochondrial disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	369	E Sequence analysis of select exons
PDK1 - Pyruvate dehydrogenase kinase deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
NeoTYPE® Discovery Profile for Solid Tumors NeoGenomics Laboratories NeoGenomics Laboratories, Inc. United States	1	315	I Immunohistochemistry F Fluorescence in situ hybridization (FISH) C Sequence analysis of the entire coding region
ProvSeq 523 Providence St. Joseph Health Molecular Genomics Laboratory Providence St Joseph Health United States	1	523	C Sequence analysis of the entire coding region
OnkoSight Advanced Comprehensive Solid Tumor Panel (DNA/RNA) BioReference Health United States	1	523	C Sequence analysis of the entire coding region
OnkoSight Advanced 523 Gene NGS Panel BioReference Health United States	1	523	C Sequence analysis of the entire coding region
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain	1	1372	E Sequence analysis of select exons
MI Tumor Seek Hybrid Caris Life Sciences United States	1	591	R RNA analysis C Sequence analysis of the entire coding region
Solid Tumor Expanded Panel Quest Diagnostics Nichols Institute San Juan Capistrano United States	1	523	I Microsatellite instability testing (MSI) R RNA analysis C Sequence analysis of the entire coding region
PDK1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Caris MI TumorSeek Comprehensive Genomic Profile Caris Life Sciences United States	1	591	R RNA analysis C Sequence analysis of the entire coding region
PKD1 DNA Sequencing and Deletion Evaluation Athena Diagnostics United States	1	2	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.