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Results: 1 to 20 of 43

Tests names and labsConditionsGenes, analytes, and microbesMethods

NGS Panel for Diamond-Blackfan Anemia

BloodGenetics
Spain
2332
  • C Sequence analysis of the entire coding region

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS Panel for Bone Marrow failure

BloodGenetics
Spain
5669
  • C Sequence analysis of the entire coding region

RPL5 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
754562
  • 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
249155
  • C Sequence analysis of the entire coding region

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • 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 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, part of Exact Sciences
United States
266186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Diamond-Blackfan anemia 6, 612561, Autosomal dominant; DBA6 (Blackfan-Diamond anemia) (RPL5 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Diamond-Blackfan anemia 6, 612561, Autosomal dominant; DBA6 (Blackfan-Diamond anemia) (RPL5 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Diamond-Blackfan anemia 6, 612561, Autosomal dominant; DBA6 (Blackfan-Diamond anemia) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Diamond-Blackfan anemia 6, 612561, Autosomal dominant; DBA6 (Blackfan-Diamond anemia) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

DBANext™

Ambry Genetics
United States
1011
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diamond-Blackfan Anemia and Bone Marrow Failure via the RPL5 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Results: 1 to 20 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.