Filters

See more specimen types...

Other countries

See more countries

Results: 1 to 20 of 46

Tests names and labsConditionsGenes and analytesMethods

Skeletal dysplasia core Deletion / Duplication panel

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

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

Skeletal dysplasia core NGS panel

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

Skeletal dysplasia core Comprehensive panel

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

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

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
United States
151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel

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

COL2A1 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories
United States
101
  • T Targeted variant analysis

COL2A1 Sequence Analysis

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

COL2A1 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
101
  • D Deletion/duplication analysis

COL2A1 Deletion/Duplication Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
101
  • D Deletion/duplication analysis

COL2A1 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
101
  • T Targeted variant analysis

Stickler Syndrome Sequencing Panel

PreventionGenetics
United States
279
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Vitreoretinopathy

Asper Biogene Asper Biogene LLC
Estonia
5519
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes

Reference Laboratory Genetics
Spain
7236
  • C Sequence analysis of the entire coding region

Eye Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
321207
  • D Deletion/duplication analysis

Disproportionate Short Stature: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
19876
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
6429
  • D Deletion/duplication analysis

Results: 1 to 20 of 46

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.

Support Center