Filters

See more specimen types...

Other countries

Results: 1 to 13 of 13

Tests names and labsConditionsGenes and analytesMethods

Multicentric osteolysis, nodulosis, and arthropathy

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Torg-Winchester syndrome - Sanger / Del Dup Comprehensive

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

Torg-Winchester syndrome - Deletion/Duplication

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

Torg-Winchester syndrome - Sanger Sequencing

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

Winchester Syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection

PreventionGenetics
United States
327258
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bone Disorder/O.I. Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
11162
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Multicentric osteolysis, nodulosis and arthropathy (sequence analysis MMP2 gene)

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

MMP2

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

Skeletal Dysplasias NGS panel

Fulgent Genetics
United States
370161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
364163
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
8134
  • C Sequence analysis of the entire coding region

MMP2 - Torg Winchester syndrome

Centre of Molecular Diseases (CMM) CHUV
Switzerland
11
  • C Sequence analysis of the entire coding region

Results: 1 to 13 of 13

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