Clinical and research tests for C0043119 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	156	107	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WRN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Carrier Screening Guidelines-Based Panel Ambry Genetics United States	199	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	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
Generalized, Partial and Atypical Lipodystrophy Panel PreventionGenetics, part of Exact Sciences United States	57	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progeroid syndromes and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	21	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progeroid syndromes and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	21	21	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
Werner Syndrome via the WRN 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
Chromosomal Instability Syndromes Panel PreventionGenetics, part of Exact Sciences United States	10	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inheritest 500 PLUS Panel Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Progeria Syndrome NGS Panel Fulgent Genetics United States	42	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Werner Syndrome (WRN Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Werner Syndrome: gene deletion/duplication CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	D Deletion/duplication analysis
Hereditary Thyroid Cancer Panel Genetic Services Laboratory University of Chicago United States	11	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hereditary Cancer Panel Blueprint Genetics Finland	14	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Pediatric Solid Tumors Panel Invitae United States	90	48	D Deletion/duplication analysis 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.