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Results: 21 to 40 of 56

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Osteogenesis imperfecta core Comprehensive 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 Comprehensive panel - Dominant

HNL Genomics Connective Tissue Gene Tests
United States
97
  • D Deletion/duplication analysis
  • 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

Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Panel

PreventionGenetics, part of Exact Sciences
United States
4637
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Panel

PreventionGenetics, part of Exact Sciences
United States
3727
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Osteogenesis Imperfecta and Bone Fragility Panel

Invitae
United States
12065
  • D Deletion/duplication analysis

Osteogenesis Imperfecta via the IFITM5 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Low Bone Mass Panel (MitomeNGS)

Baylor Genetics
United States
3922
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta, Type V (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

IFITM5 Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

IFITM5

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta type V (sequence analysis of IFITM5 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta panel. 28-gene NGS panel.

Genologica Medica
Spain
4827
  • C Sequence analysis of the entire coding region

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
373169
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta and Low Bone Density Panel, Sequencing

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
3426
  • C Sequence analysis of the entire coding region

IFITM5 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Osteogenesis Imperfecta Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
2312
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta Panel, Dominant

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
103
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 56

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.