Clinical and research tests for C2675859 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RPL35A - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	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
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Diamond-Blackfan anemia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	13	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diamond-Blackfan anemia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	13	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Diamond-Blackfan anemia 5, 612528, Autosomal dominant; DBA5 (Blackfan-Diamond anemia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Diamond-Blackfan anemia 5, 612528, Autosomal dominant; DBA5 (Blackfan-Diamond anemia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
DBANext™ Ambry Genetics United States	10	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPL35A 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
Diamond-Blackfan anemia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	13	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Diamond-Blackfan anemia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	13	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diamond-Blackfan Anemia Panel PreventionGenetics, part of Exact Sciences United States	10	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Bone Marrow Failure Syndromes Panel Invitae United States	138	85	D Deletion/duplication analysis
Invitae Diamond-Blackfan Anemia Panel Invitae United States	16	13	D Deletion/duplication analysis
Diamond-Blackfan Anemia Panel Genetic Services Laboratory University of Chicago United States	15	21	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.