Clinical and research tests for C0553586 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Cancer Screening - Breast Cancer Panel (19 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	22	19	X Mutation scanning of select exons
Hereditary Cancer Screening - Colorectal & Gastric Cancer Panel (including Pancreatic Cancer) - (43 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	58	43	X Mutation scanning of select exons
Hereditary Cancer Screening - Common Hereditary Cancer Panel (41 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	47	41	X Mutation scanning of select exons
Hereditary Cancer Screening - Nervous System & Endocrine Cancer Panel (44 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	52	44	X Mutation scanning of select exons
Hereditary Cancer Screening - Breast & Gynecological Cancer Panel (33 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	37	33	X Mutation scanning of select exons
Hereditary Cancer Screening - Full Hereditary Cancer Panel (99 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	109	99	X Mutation scanning of select exons
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Common Hereditary Cancer Screening Panel PreventionGenetics, part of Exact Sciences United States	94	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
NF1 - MLPA Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis
NF1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Multi-Cancer + RNA Panel Invitae United States	143	63	D Deletion/duplication analysis
Invitae Common Hereditary Cancers + RNA Panel Invitae United States	114	47	D Deletion/duplication analysis
Invitae RASopathies and Noonan Spectrum Disorders Panel Invitae United States	60	28	D Deletion/duplication analysis
Gastric Cancer Panel PreventionGenetics, part of Exact Sciences United States	36	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Hereditary Lymphoma Panel Invitae United States	85	43	D Deletion/duplication analysis
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	250	155	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

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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.