Clinical and research tests for C4014476 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Melanoma Cancer Panel QDx Pathology Services, Inc. United States	4	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Melanoma Cancer Panel Clariti Diagnostics Laboratories LLC United States	4	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS Panel for Dyskeratosis congenita BloodGenetics Spain	12	16	C Sequence analysis of the entire coding region
Hereditary Melanoma Panel Genetic Services Laboratory University of Chicago United States	9	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS Panel for Bone Marrow failure BloodGenetics Spain	57	69	C Sequence analysis of the entire coding region
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 Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Telomere Biology Disorders Panel Invitae United States	22	13	D Deletion/duplication analysis
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	250	155	C Sequence analysis of the entire coding region
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	267	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Melanoma, cutaneous malignant, susceptibility to, 10, 615848, Autosomal dominant; CMM10 (Familial melanoma) (POT1 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
Melanoma Cancer Panel IntelligeneCG LLC United States	13	9	C Sequence analysis of the entire coding region
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cancer Screen Invitae United States	160	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Variant Resolution Test for CustomNext-Cancer® (+RNAinsight®) Ambry Genetics United States	147	18	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for BrainTumorNext® (+RNAinsight®) Ambry Genetics United States	72	8	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for CancerNext-Expanded® (+RNAinsight®) Ambry Genetics United States	95	71	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
TeloZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	24	15	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.