Clinical and research tests for 28956 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
LAMTOR2 Gene Immunodeficiency due to defect in MAPBP-interacting protein NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
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 Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Phagocytic Disorders Including Neutropenia Panel Labcorp Genetics (formerly Invitae) LabCorp 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	266	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
Congenital Neutropenia Panel Versiti Diagnostic Laboratories Versiti, Inc United States	2	24	D Deletion/duplication analysis S Mutation scanning of the entire coding region
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	552	424	D Deletion/duplication analysis
Severe Congenital Neutropenia Panel PreventionGenetics, part of Exact Sciences United States	40	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Primary Immunodeficiency Panel Baylor Genetics United States	1	463	C Sequence analysis of the entire coding region
Hereditary neutropenia (WES based NGS panel of 35 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	35	C Sequence analysis of the entire coding region
Lysosomal and peroxisomal diseases (WES based NGS panel of 122 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	122	C Sequence analysis of the entire coding region
Bone Marrow Failure Syndrome Panel CGC Genetics Unilabs Portugal	1	175	C Sequence analysis of the entire coding region
Immune Disorders Panel CGC Genetics Unilabs Portugal	1	385	C Sequence analysis of the entire coding region
Immunodeficiencies and Immunologic Diseases Panel (Complete) Mendelics Brazil	1	397	C Sequence analysis of the entire coding region
BONE MARROW FAILURE SYNDROME PANEL Laboratorio de Genetica Clinica SL Spain	1	165	E Sequence analysis of select exons
CONGENITAL NEUTROPENIA SYNDROME PANEL Laboratorio de Genetica Clinica SL Spain	1	38	E Sequence analysis of select exons

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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.