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Results: 1 to 20 of 60

Tests names and labsConditionsGenes and analytesMethods

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 NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
118
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta and osteoporosis - different panels

Institute of Human Genetics Cologne University
Germany
923
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

OSTEOGENESIS IMPERFECTA (AUTOSOMAL DOMINANT)

Laboratorio de Genetica Clinica SL
Spain
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Ehlers-Danlos Syndrome Panel

Invitae
United States
3514
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Osteogenesis Imperfecta Panel

Blueprint Genetics
Finland
127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Osteogenesis Imperfecta Panel

Invitae
United States
74
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SNX22

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

WNT1

Fulgent Genetics
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

P3H1

Fulgent Genetics
United States
271
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Exome

DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA.
Brazil
5967
  • T Targeted variant analysis

Results: 1 to 20 of 60

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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