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Results: 21 to 40 of 82

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Hypophosphatasia, infantile, childhood & adult types

HNL Genomics Connective Tissue Gene Tests
United States
41
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypophosphatasia, infantile, childhood & adult types Comprehensive Test

HNL Genomics Connective Tissue Gene Tests
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypophosphatasia, infantile, childhood & adult types Deletion / Duplication Test

HNL Genomics Connective Tissue Gene Tests
United States
41
  • D Deletion/duplication analysis

Osteogenesis imperfecta NGS panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
3024
  • 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

Osteogenesis imperfecta Comprehensive panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
2319
  • 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

Osteogenesis imperfecta NGS panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
2319
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
3024
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Osteogenesis imperfecta Deletion / Duplication panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
2319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
3024
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Panel

PreventionGenetics, part of Exact Sciences
United States
2011
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Panel

PreventionGenetics, part of Exact Sciences
United States
4637
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Panel

PreventionGenetics, part of Exact Sciences
United States
3727
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Osteogenesis Imperfecta and Bone Fragility Panel

Invitae
United States
12065
  • D Deletion/duplication analysis

Results: 21 to 40 of 82

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.