Clinical and research tests for C3468041 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
NewbornGeneID GeneID Lab - Advanced Molecular Diagnostics United States	73	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoBreast Centogene AG - the Rare Disease Company Germany	58	28	D Deletion/duplication analysis 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
FANCC - 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	165	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Carrier Screening Ashkenazi Jewish Panel Ambry Genetics United States	51	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany	212	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
VACTERL Association and Related Disorders Panel PreventionGenetics United States	123	84	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Bone Marrow Failure Panel PreventionGenetics United States	268	187	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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 CancerNext-Expanded® (+RNAinsight®) Ambry Genetics United States	141	18	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen without X-linked Disorders Invitae United States	195	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen Invitae United States	224	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cancer® Ambry Genetics United States	147	91	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.