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Results: 41 to 54 of 54

Tests names and labsConditionsGenes, analytes, and microbesMethods

PCYT1A Single Gene

Fulgent Genetics
United States
341
  • D Deletion/duplication analysis
  • 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 Single Gene

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
557182
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Multiple Epiphyseal Dysplasia NGS Panel

Fulgent Genetics
United States
307
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51304674
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Stickler Syndrome NGS Panel

Fulgent Genetics
United States
265
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vitreoretinopathy and Wagner Syndrome NGS Panel

Fulgent Genetics
United States
266
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders NGS Panel

Fulgent Genetics
United States
186106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue NGS Panel

Fulgent Genetics
United States
20262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Eye Disorders NGS Panel

Fulgent Genetics
United States
1018459
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SMED Strudwick type

Praxis fuer Humangenetik Wien
Austria
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 41 to 54 of 54

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.