Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 1 to 20 of 73

Tests names and labsConditionsGenes, analytes, and microbesMethods

Osteogenesis imperfecta panel, autosomal recessive

Centogene AG - the Rare Disease Company
Germany
18
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta NGS panel - Dominant & Recessive

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

Osteogenesis imperfecta Comprehensive panel - Recessive

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

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

Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive

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

Osteogenesis imperfecta Deletion / Duplication panel - Recessive

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

Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive

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

Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel

Insight Medical Genetics
United States
4833
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
129
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta (WES based NGS panel of 26 genes, including CNV analysis)

CGC Genetics
Portugal
4126
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta

LifeLabs Genetics
Canada
11
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta

LifeLabs Genetics
Canada
11
  • C Sequence analysis of the entire coding region

Prenatal Skeletal Dysplasia Panel

GeneDx
United States
1648
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta Panel

GeneDx
United States
124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia

GeneDx
United States
1029
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autosomal Dominant Osteogenesis Imperfecta Panel

GeneDx
United States
13
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

COLA1/2 Related Osteogenesis imperfecta

Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
22
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta, autosomal recessive

Institute of Human Genetics Cologne University
Germany
1212
  • C Sequence analysis of the entire coding region

COL1A2 Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

COL1A1 Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 73

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.

Support Center