Clinical and research tests for 300945 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
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
Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States	218	300	C Sequence analysis of the entire coding region
Haematological diseases panel _v.2.0 CGC Genetics Unilabs Portugal	1	344	C Sequence analysis of the entire coding region
Bone Marrow Failure Syndrome Panel CGC Genetics Unilabs Portugal	1	175	C Sequence analysis of the entire coding region
Anemia Panel CGC Genetics Unilabs Portugal	1	174	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.