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Results: 1 to 20 of 36

Tests names and labsConditionsGenes, analytes, and microbesMethods

GJA8 Gene Cataract-microcornea syndrome NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

MVL Vision Panel

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

GJA8 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early-Onset High Myopia Panel

PreventionGenetics, part of Exact Sciences
United States
285137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Corneal Dystrophies Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6533
  • D Deletion/duplication analysis

Cataract 1, multiple types, 116200, Autosomal dominant; CTRCT1 (Cataract-microcornea syndrome) (GJA8 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • 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

Comprehensive Cataracts Panel

PreventionGenetics, part of Exact Sciences
United States
157171
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cataract

Amplexa Genetics Amplexa Genetics A/S
Denmark
147
  • S Mutation scanning of the entire coding region

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

Congenital Cataracts Panel

PreventionGenetics, part of Exact Sciences
United States
4441
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GJA8 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • D Deletion/duplication analysis

Cataract Panel 

CGC Genetics Unilabs
Portugal
1118
  • C Sequence analysis of the entire coding region

Cataract 1, multiple types (sequence analysis of GJA8 gene)

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

CONGENITAL CATARACTS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1120
  • E Sequence analysis of select exons

Comprehensive Eye panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
1695
  • C Sequence analysis of the entire coding region

Cataract panel. NGS panel of 69 genes.

Genologica Medica
Spain
14669
  • 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

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.