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Results: 1 to 14 of 14

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

Invitae Corneal Dystrophies Panel

Invitae
United States
6533
  • D Deletion/duplication analysis

Cornea plana 2, autosomal recessive, 217300, Autosomal recessive; CNA2 (Congenital cornea plana) (KERA gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Anterior Segment Dysgenesis Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
272278
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel

Invitae
United States
13081
  • D Deletion/duplication analysis

Corneal Dystrophies Panel

PreventionGenetics, part of Exact Sciences
United States
4027
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cornea plana 2, autosomal recessive (sequence analysis of KERA gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Corneal dystrophy panel. NGS panel of 27 genes.

Genologica Medica
Spain
4427
  • C Sequence analysis of the entire coding region

Cornea plana: Full gene sequencing

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

Corneal Dystrophy NGS Panel

Fulgent Genetics
United States
4724
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Anterior segment defects

Department of Clinical Genetics Copenhagen University Hospital, Rigshospitalet
Denmark
1213
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KERA Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • 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

Results: 1 to 14 of 14

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.