Clinical and research tests for 8838 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood 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
CCN6 - 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
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant 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
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
Arthropathy, progressive pseudorheumatoid, of childhood, 208230, Autosomal recessive; PPAC (Progressive pseudorheumatoid arthropathy of childhood) (WISP3 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
Arthropathy, progressive pseudorheumatoid, of childhood, 208230, Autosomal recessive; PPAC (Progressive pseudorheumatoid arthropathy of childhood) (WISP3 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
Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230, Autosomal recessive (Progressive pseudorheumatoid arthropathy of childhood) (WISP3 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
Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230, Autosomal recessive (Progressive pseudorheumatoid arthropathy of childhood) (WISP3 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
Progressive pseudorheumatoid arthropathy of childhood Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Progressive pseudorheumatoid arthropathy of childhood Sequencing test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Progressive pseudorheumatoid arthropathy of childhood Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	136	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spondylo-Epi-Metaphyseal dysplasias NGS panel HNL Genomics Connective Tissue Gene Tests United States	79	54	C Sequence analysis of the entire coding region T Targeted variant analysis

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