Clinical and research tests for C1835829 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
LAMTOR2 - 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
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Phagocytic Disorders Including Neutropenia Panel Invitae United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	267	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Immunodeficiency due to defect in MAPBP-interacting protein, 610798, Autosomal recessive (Primary immunodeficiency syndrome due to p14 deficiency) (LAMTOR2 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
Immunodeficiency due to defect in MAPBP-interacting protein, 610798, Autosomal recessive (Primary immunodeficiency syndrome due to p14 deficiency) (LAMTOR2 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
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Severe Congenital Neutropenia Panel PreventionGenetics, part of Exact Sciences United States	26	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain	194	122	C Sequence analysis of the entire coding region
Congenital neutropenia panel. NGS panel of 26 genes. Genologica Medica Spain	35	25	C Sequence analysis of the entire coding region
Neutropenia Asper Biogene Asper Biogene LLC Estonia	33	26	C Sequence analysis of the entire coding region
LAMTOR2 - Genetic Analysis Versiti Diagnostic Laboratories Versiti, Inc United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bone Marrow Failure Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	95	62	C Sequence analysis of the entire coding region
Bone Marrow Failure NGS Panel Fulgent Genetics United States	180	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neutropenia NGS Panel Fulgent Genetics United States	39	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes Reference Laboratory Genetics Spain	22	20	C Sequence analysis of the entire coding region
Severe Congenital Neutropenia , Panel Massive Sequencing (NGS) 9 Genes Reference Laboratory Genetics Spain	10	9	C Sequence analysis of the entire coding region

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