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Results: 1 to 20 of 36

Tests names and labsConditionsGenes and analytesMethods

DonorReady Customized Carrier Screen (Select from 204 Genes)

EVOLVEGENE EvolveGene
United States
325204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FamilyReady Carrier Screen (204 Genes)

EVOLVEGENE EvolveGene
United States
326204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta NGS panel - Dominant & Recessive

Connective Tissue Gene Tests
United States
2923
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta Comprehensive panel - Recessive

Connective Tissue Gene Tests
United States
2218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta NGS panel - Recessive

Connective Tissue Gene Tests
United States
2218
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive

Connective Tissue Gene Tests
United States
2923
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta Deletion / Duplication panel - Recessive

Connective Tissue Gene Tests
United States
2218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive

Connective Tissue Gene Tests
United States
2923
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Abnormal mineralization disorders Deletion/ Duplication Panel

Connective Tissue Gene Tests
United States
215
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal mineralization disorders Comprehensive Panel

Connective Tissue Gene Tests
United States
215
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypophosphatemic Rickets Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
610
  • D Deletion/duplication analysis

Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel

Insight Medical Genetics
United States
4833
  • C Sequence analysis of the entire coding region

Hypophosphatasia

Molecular Diagnostic Laboratory Diagnostic Services of Manitoba, Health Sciences Centre site
Canada
11
  • T Targeted variant analysis

Hypophosphatemia: gene deletion/duplication

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • D Deletion/duplication analysis

Hypophosphatemia: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Abnormal mineralization disorders NGS panel

Connective Tissue Gene Tests
United States
215
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypophosphatemic Rickets Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
610
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia with Abnormal Mineralization Panel

Blueprint Genetics
Finland
227
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Family Prep Screen

Counsyl
United States
112110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inheritest NGS, Comprehensive

Integrated Genetics Westborough Integrated Genetics
United States
135140
  • T Targeted variant analysis

Results: 1 to 20 of 36

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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