Clinical and research tests for C1866552 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHAF2 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Disease Risk Test Color Diagnostics, LLC DBA Color Health United States	51	59	C Sequence analysis of the entire coding region
Hereditary Paraganglioma-Pheochromocytoma Expanded Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	12	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary pediatric cancer panel. NGS panel of 71 genes. Genologica Medica Spain	158	71	C Sequence analysis of the entire coding region
Hereditary endocrine cancer panel. NGS panel of 22 genes. Genologica Medica Spain	68	22	C Sequence analysis of the entire coding region
Hereditary Paraganglioma-Pheochromocytoma Genologica Medica Spain	32	12	C Sequence analysis of the entire coding region
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
Mitochondrial Panel, Nuclear genes CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	145	134	C Sequence analysis of the entire coding region
Paragangliomas: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
ACMG Secondary Findings (Medically Actionable Genes, Including Cardio and Cancer) NGS Panel Fulgent Genetics United States	177	59	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States	416	235	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes Reference Laboratory Genetics Spain	33	25	C Sequence analysis of the entire coding region
Hereditary Pheochromocytoma-Paraganglioma Syndrome , Panel Massive Sequencing (NGS) 11 Genes Reference Laboratory Genetics Spain	9	11	C Sequence analysis of the entire coding region
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Reference Laboratory Genetics Spain	126	90	C Sequence analysis of the entire coding region
PHEOCHROMOCYTOMA-PARAGANGLIOMA Laboratorio de Genetica Clinica SL Spain	6	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 2, Mutations (c.232 G>A,c.232 G>C) SDHAF2/PGL2 Gene Reference Laboratory Genetics Spain	1	1	E Sequence analysis of select exons
Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 2, Sequencing SDHAF2/PGL2 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Comprehensive Hereditary Cancer Panel Baylor Genetics United States	132	61	E Sequence analysis of select exons
Hereditary Endocrine Cancer Panel Baylor Genetics United States	51	15	E Sequence analysis of select exons

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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.