Clinical and research tests for 219285 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	C Sequence analysis of the entire coding region
Ataxia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	199	D Deletion/duplication analysis C Sequence analysis of the entire coding region
OncoAlly™ Comprehensive Hereditary Cancer Analysis Variantyx, Inc. United States	1	88	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	155	107	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SAMD9L - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	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
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany	451	452	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany	442	443	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	754	562	D Deletion/duplication analysis
Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel Invitae United States	70	50	D Deletion/duplication analysis
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	249	155	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
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
Ataxia-pancytopenia syndrome, 159550, Autosomal dominant; ATXPC (Ataxia-pancytopenia syndrome) (SAMD9L 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
Ataxia-pancytopenia syndrome, 159550, Autosomal dominant; ATXPC (Ataxia-pancytopenia syndrome) (SAMD9L 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
Pediatric Cancer Panel PreventionGenetics, part of Exact Sciences United States	77	64	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Myeloid Malignancy Panel Genetic Services Laboratory University of Chicago United States	37	85	D Deletion/duplication analysis 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.