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Results: 1 to 20 of 94

Tests names and labsConditionsGenes and analytesMethods

Atelosteogenesis type 3

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

Atelosteogenesis type 1

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

Spondylocarpotarsal synostosis syndrome

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

FLNB Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
51
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders Panel

PreventionGenetics
United States
15493
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel

Connective Tissue Gene Tests
United States
5253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal dysplasia and skeletal ciliopathy NGS panel

Connective Tissue Gene Tests
United States
5253
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia and skeletal ciliopathy Comprehensive panel

Connective Tissue Gene Tests
United States
5253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Larsen syndrome, autosomal dominant NGS Test

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

Atelosteogenesis, type I / III NGS Test

Connective Tissue Gene Tests
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Larsen syndrome, autosomal dominant Comprehensive Test

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

Larsen syndrome, autosomal dominant Deletion / Duplication Test

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

Atelosteogenesis, type I / III Deletion / Duplication Test

Connective Tissue Gene Tests
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spondylocarpotarsal synostosis syndrome NGS Test

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

Spondylocarpotarsal synostosis syndrome Comprehensive Test

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

Spondylocarpotarsal synostosis syndrome Deletion / Duplication Test

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

Atelosteogenesis, type I / III Comprehensive Test

Connective Tissue Gene Tests
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia extended Deletion / Duplication panel

Connective Tissue Gene Tests
United States
2619
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal dysplasia core & extended NGS panel

Connective Tissue Gene Tests
United States
4629
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylo-Epi-Metaphyseal dysplasias NGS panel

Connective Tissue Gene Tests
United States
8054
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 94

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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