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Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

NGS Panel for Diamond-Blackfan Anemia

BloodGenetics
Spain
2325
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Facial Dysostosis and Frontonasal Dysplasia Panel

Invitae
United States
4428
  • D Deletion/duplication analysis

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
244149
  • C Sequence analysis of the entire coding region

Diamond-Blackfan anemia Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1318
  • 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
1318
  • 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
1318
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Bone Marrow Failure Panel

PreventionGenetics
United States
266186
  • 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 Genetic Diagnosis and Research Centre
Turkey
11
  • 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 Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Diamond-Blackfan anemia Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1318
  • 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
1318
  • 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
1318
  • 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
2020
  • 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
425
  • 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
112116
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.