Clinical and research tests for C1846059 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel Invitae United States	48	38	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Microcephalic primordial dwarfism Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Microcephalic primordial dwarfism NGS panel HNL Genomics Connective Tissue Gene Tests United States	23	21	C Sequence analysis of the entire coding region T Targeted variant analysis
Microcephalic primordial dwarfism Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Roifman syndrome, 616651, Autosomal recessive; RFMN (Roifman syndrome) (RNU4ATAC 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
Roifman syndrome, 616651, Autosomal recessive; RFMN (Roifman syndrome) (RNU4ATAC 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
Inherited Thrombocytopenia Panel Versiti Diagnostic Laboratories Versiti, Inc United States	40	42	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
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	79	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	79	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephalic primordial dwarfism NGS panel HNL Genomics Connective Tissue Gene Tests United States	23	21	C Sequence analysis of the entire coding region T Targeted variant analysis
Microcephalic primordial dwarfism Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephalic primordial dwarfism Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Invitae United States	177	130	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
RNU4ATAC Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
RNU4ATAC - Genetic Analysis Versiti Diagnostic Laboratories Versiti, Inc United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region

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