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Results: 1 to 20 of 34

Tests names and labsConditionsGenes and analytesMethods

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

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

Multiple Epiphyseal Dysplasia Sequencing Panel

PreventionGenetics
United States
247
  • 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

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

Avascular necrosis of the head of femur

Genera
Brazil
41
  • C Sequence analysis of the entire coding region

COL2A1 related disorders

bio.logis Center for Human Genetics
Germany
141
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Single gene testing COL2A1

CeGaT GmbH
Germany
141
  • C Sequence analysis of the entire coding region

COL2A1 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
181
  • E Sequence analysis of select exons

COL2A1 screening

Connective Tissue Laboratory Ghent University Hospital
Belgium
121
  • C Sequence analysis of the entire coding region

COL2A1

Fulgent Genetics
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS panel

Fulgent Genetics
United States
370161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 34

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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