U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

Results: 41 to 54 of 54

Tests names and labsConditionsGenes, analytes, and microbesMethods

Blackfan-Diamond anemia - Sequencing Panel

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
120
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Blackfan-Diamond anemia

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Blackfan-Diamond anemia

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Diamond Blackfan Anemia:RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17 and RPS7 genes sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
98
  • 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

RPS19 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

RPS19 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RPS19 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Diamond-Blackfan Anemia NGS Panel

Fulgent Genetics
United States
1310
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diamond Blackfan Anemia: RPS19 gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • C Sequence analysis of the entire coding region

Diamond Blackfan Anemia: Deletions-duplications analysis (MLPA) RPS19 gene

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • D Deletion/duplication 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: 41 to 54 of 54

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.