Clinical and research tests for C0796113 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Cancer Screening - Renal/Urinary Tract Cancer Panel (Including prostate and kidney cancer) - (39 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	40	39	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
CentoCancer Centogene AG - the Rare Disease Company Germany	114	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	156	107	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 Overgrowth Syndromes Panel Invitae United States	96	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Perlman syndrome, 267000, Autosomal recessive (Perlman syndrome) (DIS3L2 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
Perlman syndrome, 267000, Autosomal recessive (Perlman syndrome) (DIS3L2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Wilms Tumor Panel PreventionGenetics, part of Exact Sciences United States	48	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States	145	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pediatric Cancer Panel PreventionGenetics, part of Exact Sciences United States	78	64	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Perlman Syndrome via the DIS3L2 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
Cancer Panel PreventionGenetics, part of Exact Sciences United States	122	117	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Inherited Cancer Panel Dhiti Omics Technologies Private Ltd India	136	84	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
Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel. Genologica Medica Spain	88	43	C Sequence analysis of the entire coding region
Beckwith-Wiedemann syndrome panel Genologica Medica Spain	20	10	C Sequence analysis of the entire coding region
Hereditary kidney cancer panel. NGS panel of 26 genes. Genologica Medica Spain	74	26	C Sequence analysis of the entire coding region
Beckwith-Wiedemann syndrome panel. NGS panel of 10 genes. Genologica Medica Spain	20	10	C Sequence analysis of the entire coding region

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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.