U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 1 to 20 of 103

Tests names and labsConditionsGenes, analytes, and microbesMethods

CRX Gene Cone-rod dystrophy type 2 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

CRX - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CRX - MLPA

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • 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

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Macular Dystrophy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6636
  • D Deletion/duplication analysis

Leber congenital amaurosis and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2032
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Leber congenital amaurosis and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2032
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leber congenital amaurosis and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2032
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leber congenital amaurosis 7, 613829; LCA7 (Leber congenital amaurosis) (CRX 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

Leber congenital amaurosis 7, 613829; LCA7 (Leber congenital amaurosis) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cone-rod retinal dystrophy-2, 120970, Autosomal dominant; CORD2 (Cone rod dystrophy) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cone-rod retinal dystrophy-2, 120970, Autosomal dominant; CORD2 (Cone rod dystrophy) (CRX 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

Invitae Inherited Retinal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cone-rod and cone dystrophy panel

Amplexa Genetics Amplexa Genetics A/S
Denmark
130
  • S Mutation scanning of the entire coding region

Retinitis Pigmentosa, autosomal dominant and X-linked

Amplexa Genetics Amplexa Genetics A/S
Denmark
230
  • S Mutation scanning of the entire coding region

Cone Rod Dystrophies

Amplexa Genetics Amplexa Genetics A/S
Denmark
140
  • S Mutation scanning of the entire coding region

Results: 1 to 20 of 103

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.