Clinical and research tests for C0272167 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SCID Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	65	50	C Sequence analysis of the entire coding region
Congenital Neutropenia GenePanel Mayo Clinic Laboratories Mayo Clinic United States	46	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AK2 - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	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
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany	212	212	D Deletion/duplication analysis 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 Nuclear Mitochondrial Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Reticular dysgenesis, 267500, Autosomal recessive (Reticular dysgenesis) (AK2 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
Severe Combined Immunodeficiency (SCID) Panel PreventionGenetics, part of Exact Sciences United States	21	17	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 Labcorp Genetics (formerly Invitae) LabCorp United States	177	130	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	552	424	D Deletion/duplication analysis
Invitae Bone Marrow Failure Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	137	85	D Deletion/duplication analysis
AK2 - Genetic Analysis Versiti Diagnostic Laboratories Versiti, Inc United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Reticular dysgenesis (sequence analysis of AK2 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain	194	122	C Sequence analysis of the entire coding region
Congenital dyskeratosis panel. NGS panel of 13 genes. Genologica Medica Spain	19	13	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.