Clinical and research tests for 171300 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Pheochromocytoma, 171300, Autosomal dominant (Hereditary pheochromocytoma-paraganglioma) (VHL 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
Pheochromocytoma, 171300, Autosomal dominant (Hereditary pheochromocytoma-paraganglioma) (KIF1B 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
Pheochromocytoma, 171300, Autosomal dominant (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
Pheochromocytoma, 171300, Autosomal dominant (Hereditary pheochromocytoma-paraganglioma) (RET 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
Pheochromocytoma, 171300, Autosomal dominant (Hereditary pheochromocytoma-paraganglioma) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Pheochromocytoma, 171300, Autosomal dominant (Hereditary pheochromocytoma-paraganglioma) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Pheochromocytoma, susceptibility to, 171300, Autosomal dominant (Hereditary pheochromocytoma-paraganglioma) (TMEM127 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
Pheochromocytoma, 171300, Autosomal dominant (Hereditary pheochromocytoma-paraganglioma) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Pheochromocytoma, modifier of, 171300, Autosomal dominant (Hereditary pheochromocytoma-paraganglioma) (GDNF 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
Pheochromocytoma, modifier of, 171300, Autosomal dominant (Hereditary pheochromocytoma-paraganglioma) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Expedio Hereditary Cancer Predisposition Screening Assay Kailos Genetics United States	40	31	C Sequence analysis of the entire coding region
OnkoRisk Hereditary Oncology Plus Panel BioReference Health United States	97	77	C Sequence analysis of the entire coding region
OnkoRisk Hereditary Oncology Guideline Panel BioReference Health United States	71	54	C Sequence analysis of the entire coding region
OnkoRisk Women's Hereditary Cancer Panel BioReference Health United States	34	18	C Sequence analysis of the entire coding region
PREVENTEST GeneID Lab - Advanced Molecular Diagnostics United States	60	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
von Hippel Lindau disease Genetic Pathology SA Pathology Australia	3	1	D Deletion/duplication analysis H Detection of homozygosity M Methylation analysis C Sequence analysis of the entire coding region
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
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	693	388	D Deletion/duplication analysis 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

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