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Results: 21 to 40 of 86

Tests names and labsConditionsGenes, analytes, and microbesMethods

Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel

HNL Genomics 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

HNL Genomics 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

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

Platyspondylic lethal skeletal dysplasia, Torrance type

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

Platyspondylic lethal skeletal dysplasia, Torrance type Deletion / Duplication Test

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

Platyspondylic lethal skeletal dysplasia, Torrance type Comprehensive Test

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

Skeletal dysplasia core Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal dysplasia core & extended NGS panel

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

Skeletal dysplasia core NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2110
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia core Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia core & extended Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
4629
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia core & extended Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
4629
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

COL2A1-Related Disorders via the COL2A1 Gene

PreventionGenetics, part of Exact Sciences
United States
151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos Syndromes (EDS) Panel

PreventionGenetics, part of Exact Sciences
United States
9965
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

COL2A1 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
101
  • T Targeted variant analysis

COL2A1 Sequence Analysis

Baylor Genetics
United States
101
  • C Sequence analysis of the entire coding region

COL2A1 Deletion/Duplication Analysis

Baylor Genetics
United States
101
  • D Deletion/duplication analysis

COL2A1 Deletion/Duplication Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
101
  • D Deletion/duplication analysis

COL2A1 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
101
  • T Targeted variant analysis

Stickler Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
3012
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 21 to 40 of 86

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.