Clinical and research tests for C3494181 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary pheochromocytoma and paraganglioma panel (12 genes) Molecular Genetics Laboratory North York General Hospital Canada	8	12	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	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
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
SDHD - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	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 Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	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 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
Paragangliomas 1, with or without deafness, 168000, Autosomal dominant; PGL1 (Hereditary pheochromocytoma-paraganglioma) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Paragangliomas 1, with or without deafness, 168000, Autosomal dominant; PGL1 (Hereditary pheochromocytoma-paraganglioma) (SDHD 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
Invitae Genetic Health Screen Labcorp Genetics (formerly Invitae) LabCorp United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cancer Screen Labcorp Genetics (formerly Invitae) LabCorp United States	160	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae 78 Gene Actionable Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	220	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SDHD - hereditary paraganglioma and pheochromocytoma Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	2	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 Pheochromocytoma and Paraganglioma Panel Genetic Services Laboratory University of Chicago United States	10	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Renal Cancer Panel PreventionGenetics, part of Exact Sciences United States	33	25	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.