Clinical and research tests for C2676137 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 43

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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 NGS panel HNL Genomics Connective Tissue Gene Tests United States	13	18	C Sequence analysis of the entire coding region T Targeted variant analysis
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
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPS19 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
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
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain	194	122	C Sequence analysis of the entire coding region
Blackfan-Diamond anemia panel. NGS panel of 11 genes. Genologica Medica Spain	14	11	C Sequence analysis of the entire coding region
Bone Marrow Failure Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	95	62	C Sequence analysis of the entire coding region
Diamond-Blackfan anemia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	20	20	C Sequence analysis of the entire coding region
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Reference Laboratory Genetics Spain	63	58	C Sequence analysis of the entire coding region
Diamond-Blackfan Anemia, Panel Massive Sequencing (NGS) 9 Genes Reference Laboratory Genetics Spain	9	9	C Sequence analysis of the entire coding region
Diamond-Blackfan Anemia, Panel Deletions-Duplications (MLPA) RPL35A, RPS17, RPL11, RPL5, RPS26, RPS19 Genes Reference Laboratory Genetics Spain	6	6	D Deletion/duplication analysis
Diamond-Blackfan Anemia, Deletions-Duplications (MLPA) RPS19 Gene Reference Laboratory Genetics Spain	1	1	D Deletion/duplication analysis
Diamond-Blackfan Anemia, Sequencing RPS19 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
BLACKFAN-DIAMOND ANEMIA Laboratorio de Genetica Clinica SL Spain	11	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RPS19 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	2	1	E Sequence analysis of select exons T Targeted variant analysis
Erythrocytes, Anemia Panel CeGaT GmbH Germany	14	33	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 43

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.