Clinical and research tests for 2254 - 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	647	I Microsatellite instability testing (MSI) 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
OmniSeq INSIGHT OmniSeq, Inc. United States	1	525	R RNA analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Invitae Limb and Digital Malformations Panel Invitae United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Multiple synostoses syndrome 3, 612961, Autosomal dominant; SYNS3 (Multiple synostoses syndrome) (FGF9 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
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
Limb reduction defects (WES based NGS panel of 141 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	141	C Sequence analysis of the entire coding region
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal	1	606	C Sequence analysis of the entire coding region
Skeletal Diseases Panel Mendelics Brazil	1	333	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
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
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
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
Multiple synostoses syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	C Sequence analysis of the entire coding region
Multiple Synostosis Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes Reference Laboratory Genetics Spain	6	6	C Sequence analysis of the entire coding region
Mental retardation - different panels Institute of Human Genetics Cologne University Germany	7	2536	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SYNOSTOSIS, MULTIPLE Laboratorio de Genetica Clinica SL Spain	3	3	C Sequence analysis of the entire coding region
Multiple Synostosis Syndrome Type 3 , Sequencing FGF9 Gene Reference Laboratory Genetics Spain	1	1	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.