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Results: 1 to 20 of 28 (representing 15 labs)

Tests names and labsConditionsGenes and analytesMethods

Osteogenesis imperfecta, type VI - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta, type VI - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Osteogenesis imperfecta, type VI - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

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

PreventionGenetics
United States
3325
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel

PreventionGenetics
United States
2719
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis Imperfecta via the SERPINF1 Gene

PreventionGenetics
United States
11
  • 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

SERPINF1 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

SERPINF1 Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

SERPINF1 Sequence Analysis

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

SERPINF1 Comprehensive - Sequence & Deletion/Duplication Analysis

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Osteogenesis Imperfecta Panel

Blueprint Genetics
Finland
161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal / Malformation Syndrome Panel

Blueprint Genetics
Finland
13429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia with Abnormal Mineralization Panel

Blueprint Genetics
Finland
227
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

OSTEOGENESIS IMPERFECTA

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1314
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta & Low Bone Mass Disorders Panel

Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center
United States
2426
  • D Deletion/duplication analysis

NGS panel - Osteogenesis Imperfecta and related disorders

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

Chondrodysplasia punctata Panel

CeGaT GmbH
Germany
2322
  • C Sequence analysis of the entire coding region

Autosomal Recessive Osteogenesis Imperfecta Panel

Collagen Diagnostic Laboratory University of Washington
United States
1312
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

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.

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