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Results: 1 to 20 of 59 (representing 25 labs)

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

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
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

Comprehensive Dominant Bone Fragility Panel

Collagen Diagnostic Laboratory University of Washington
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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
5968
  • T Targeted variant analysis

Osteogenesis Imperfecta & Low Bone Mass Disorders Panel

Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center
United States
2527
  • 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

PLS3 - Gene sequencing

Genome Diagnostics VU University Medical Center
Netherlands
21
  • E Sequence analysis of select exons
  • T Targeted variant analysis

IFITM5 - Gene sequencing

Genome Diagnostics VU University Medical Center
Netherlands
21
  • E Sequence analysis of select exons
  • T Targeted variant analysis

COL1A1 - Gene Sequencing & Del/Dup analysis

Genome Diagnostics VU 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

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

SPARC-related osteogenesis imperfecta

Institute of Human Genetics Cologne University
Germany
11
  • C Sequence analysis of the entire coding region

Chondrodysplasia punctata Panel

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

Results: 1 to 20 of 59

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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