Clinical and research tests for C0919267 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Clariti 20/20 QDx Pathology Services, Inc. United States	15	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clariti 20/20 Clariti Diagnostics Laboratories LLC United States	15	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AKT1 Gene Sequencing GENETIX Centro de Investigación en Genética Humana y Reproductiva Colombia	5	1	S Mutation scanning of the entire coding region
OnkoRisk Hereditary Oncology Plus Panel BioReference Laboratories United States	97	77	C Sequence analysis of the entire coding region
OnkoRisk Hereditary Oncology Management Panel BioReference Laboratories United States	47	17	C Sequence analysis of the entire coding region
OnkoRisk Women's Hereditary Cancer Panel BioReference Laboratories United States	34	18	C Sequence analysis of the entire coding region
BRACAnalysis CDx™ Myriad Genetics, Inc. United States	6	2	D Deletion/duplication analysis S Mutation scanning of the entire coding region
Hereditary Colon and Endometrial Cancer-ColoNGS GeneKor MSA Greece	10	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Non-Polyposis Colorectal Cancer (HNPCC) or Lynch Syndrome GeneKor MSA Greece	7	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
CTNNB1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PRKN - MLPA Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis
CDH1 - MLPA Centogene AG - the Rare Disease Company Germany	6	1	D Deletion/duplication analysis
AKT1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PIK3CA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PRKN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	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 Common Hereditary Cancers + RNA Panel Invitae United States	114	47	D Deletion/duplication analysis
Early-Onset High Myopia Panel PreventionGenetics United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.

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Results: 1 to 20 of 142

Results: 1 to 20 of 142