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Results: 1 to 20 of 43

Tests names and labsConditionsGenes, analytes, and microbesMethods

RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

NGS Panel for Diamond-Blackfan Anemia

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

NGS Panel for Bone Marrow failure

BloodGenetics
Spain
5769
  • C Sequence analysis of the entire coding region

RPS28 - 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
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
250155
  • 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, part of Exact Sciences
United States
267186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164, Autosomal dominant; DBA15 (Blackfan-Diamond anemia) (RPS28 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 15 with mandibulofacial dysostosis, 606164, Autosomal dominant; DBA15 (Blackfan-Diamond anemia) (RPS28 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • 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 Panel

Genetic Services Laboratory University of Chicago
United States
1521
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hearing Loss + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
218300
  • C Sequence analysis of the entire coding region

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.