Clinical and research tests for C4225422 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Results: 1 to 18 of 18

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	56	69	C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Facial Dysostosis and Frontonasal Dysplasia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	44	28	D Deletion/duplication analysis
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	249	155	C Sequence analysis of the entire coding region
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	266	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946, X-linked recessive; DBA14 (Blackfan-Diamond anemia) (TSR2 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 14 with mandibulofacial dysostosis, 300946, X-linked recessive; DBA14 (Blackfan-Diamond anemia) (TSR2 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 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	18	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Diamond-Blackfan anemia panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	4	25	C Sequence analysis of the entire coding region T Targeted variant analysis
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	112	116	C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.