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Results: 1 to 20 of 37

Tests names and labsConditionsGenes and analytesMethods

Diamond-blackfan anemia 3

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

Diamond-Blackfan anemia Comprehensive panel

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

Connective Tissue Gene Tests
United States
1318
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diamond-Blackfan anemia NGS panel

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

Diamond-Blackfan Anemia Sequencing Panel with CNV Detection

PreventionGenetics
United States
1011
  • 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 RPS24 Gene

PreventionGenetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Diamond-Blackfan Anemia Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1511
  • C Sequence analysis of the entire coding region

RPS19. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

RPL5. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

RPS19. MLPA testing

Instituto de Medicina Genomica
Spain
81
  • D Deletion/duplication analysis

RPL35A. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

RPL11. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

RPS26. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

RPS10. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

RPS24. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

RPS17. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

DBANext

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

Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes

Reference Laboratory Genetics
Spain
6358
  • C Sequence analysis of the entire coding region

Diamond-Blackfan Anemia, Panel Massive Sequencing (NGS) 9 Genes

Reference Laboratory Genetics
Spain
99
  • C Sequence analysis of the entire coding region

Diamond-Blackfan Anemia, Sequencing RPL5,RPS10,RPL11,RPL35A,RPS26,RPS24,RPS17,RPS7 Genes

Reference Laboratory Genetics
Spain
88
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 37

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.

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