U.S. flag

An official website of the United States government

Filters

reset all
See more specimen types...

Other countries

Results: 1 to 13 of 13

Tests names and labsConditionsGenes, analytes, and microbesMethods

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 Comprehensive panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
2319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta NGS panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
2319
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive

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

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

Osteogenesis Imperfecta

Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital
New Zealand
21
  • T Targeted variant analysis

COL1A2 single gene sequencing

Molecular Vision Laboratory
United States
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

COL1A1

Molecular Vision Laboratory
United States
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NGS panel - Osteogenesis Imperfecta and related disorders

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
519
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

COL1A1 - Gene Sequencing & Del/Dup analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
21
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • T Targeted variant analysis

COL1A2 - Gene Sequencing & Del/Dup analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
22
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • T Targeted variant analysis

COL1A1/COL1A2-Related Osteogenesis Imperfecta

Collagen Diagnostic Laboratory University of Washington
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 13 of 13

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.