U.S. flag

An official website of the United States government

Filters

Results: 1 to 20 of 27

Tests names and labsConditionsGenes, analytes, and microbesMethods

Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
5253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal dysplasia and skeletal ciliopathy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
5253
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia and skeletal ciliopathy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
5253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta, types I, II, III & IV Deletion / Duplication Test A

HNL Genomics Connective Tissue Gene Tests
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta, types I, II, III & IV NGS Test A

HNL Genomics Connective Tissue Gene Tests
United States
41
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta, types I, II, III & IV Deletion / Duplication Test B

HNL Genomics Connective Tissue Gene Tests
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta, types I, II, III & IV Comprehensive Test B

HNL Genomics Connective Tissue Gene Tests
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta, types I, II, III & IV Comprehensive Test A

HNL Genomics Connective Tissue Gene Tests
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta, types I, II, III & IV NGS Test B

HNL Genomics Connective Tissue Gene Tests
United States
41
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta NGS panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
3024
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta core NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
53
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia core Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta NGS panel - Dominant

HNL Genomics Connective Tissue Gene Tests
United States
97
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta Deletion / Duplication panel - Dominant

HNL Genomics Connective Tissue Gene Tests
United States
97
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal dysplasia core & extended NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
4629
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta core Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
53
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
3024
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal dysplasia core NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2110
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia core Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia core & extended Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
4629
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 27

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.