Clinical and research tests for C2675860 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NGS Panel for Diamond-Blackfan Anemia BloodGenetics Spain	23	32	C Sequence analysis of the entire coding region
NGS Panel for Bone Marrow failure BloodGenetics Spain	57	69	C Sequence analysis of the entire coding region
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	250	155	C Sequence analysis of the entire coding region
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
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
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 4, 612527, Autosomal dominant; DBA4 (Blackfan-Diamond anemia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Diamond-Blackfan anemia 4, 612527, Autosomal dominant; DBA4 (Blackfan-Diamond anemia) (RPS17 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Diamond-Blackfan anemia 4, 612527, Autosomal dominant; DBA4 (Blackfan-Diamond anemia) (RPS17 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Diamond-Blackfan anemia 4, 612527, Autosomal dominant; DBA4 (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 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 RPS17 Gene PreventionGenetics, part of Exact Sciences United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
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

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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.