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Results: 1 to 20 of 32 (representing 17 labs)

Tests names and labsConditionsGenes and analytesMethods

Diamond-Blackfan anemia 5

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

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

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RPL35A-Related Diamond-Blackfan Anemia

Ambry Genetics
United States
11
  • C Sequence analysis of the entire coding region

Diamond-Blackfan anemia (NGS panel of 18 genes)

CGC Genetics
Portugal
1718
  • C Sequence analysis of the entire coding region

Diamond-Blackfan anemia (NGS panel of 18 genes)

CGC Genetics
Portugal
1718
  • C Sequence analysis of the entire coding region

Diamond-Blackfan Anemia, Panel Deletions-Duplications (MLPA) RPL35A, RPS17, RPL11, RPL5, RPS26, RPS19 Genes

Reference Laboratory Genetics
Spain
66
  • D Deletion/duplication analysis

Diamond-Blackfan Anemia, Sequencing RPL35A Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

BLACKFAN-DIAMOND ANEMIA

Laboratorio de Genetica Clinica SL
Spain
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Bone Marrow Failure Syndromes Panel

Invitae
United States
4939
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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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