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Results: 1 to 10 of 10

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

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

Spondylo-Epi-Metaphyseal dysplasias NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
7954
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
7954
  • 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 extended Comprehensive panel

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

Skeletal dysplasia extended NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2619
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple Epiphyseal Dysplasia Panel

PreventionGenetics, part of Exact Sciences
United States
2910
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Hand Type (SMED-SL) via the DDR2 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 10 of 10

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.