Clinical and research tests for 619101 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TGFBI gene mutation analysis Genetics and Molecular Pathology SA Pathology Australia	7	1	C Sequence analysis of the entire coding region
CNS tumour panel (20 genes) Molecular Genetics Laboratory North York General Hospital Canada	19	20	C Sequence analysis of the entire coding region
Invitae eMERGE Panel Labcorp Genetics (formerly Invitae) LabCorp United States	59	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lynch Syndrome via MLPA of PMS2 PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis
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
CentoBreast Centogene AG - the Rare Disease Company Germany	58	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoColon Centogene AG - the Rare Disease Company Germany	67	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoCancer Centogene AG - the Rare Disease Company Germany	113	68	D Deletion/duplication analysis 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
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
PMS2 - MLPA Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis
PMS2 - Sanger sequencing Centogene AG - the Rare Disease Company Germany	2	1	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
Pancreatitis Panel Centogene AG - the Rare Disease Company Germany	27	29	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 Multi-Cancer + RNA Panel Labcorp Genetics (formerly Invitae) LabCorp United States	142	63	D Deletion/duplication analysis
Invitae Common Hereditary Cancers + RNA Panel Labcorp Genetics (formerly Invitae) LabCorp United States	114	47	D Deletion/duplication analysis
Invitae eMERGE Panel Labcorp Genetics (formerly Invitae) LabCorp United States	59	16	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 Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication 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.