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Results: 1 to 20 of 58

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

AIPL1 - NGS including CNV analysis

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

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

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 4, 604393, Autosomal recessive; LCA4 (Leber konjenital amaurozis) (AIPL1 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 4, 604393, Autosomal recessive; LCA4 (Leber konjenital amaurozis) (MLPA)

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

Retinitis pigmentosa, juvenile, 604393, Autosomal recessive (Retinitis pigmentosa) (MLPA)

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

Retinitis pigmentosa, juvenile, 604393, Autosomal recessive (Retinitis pigmentosa) (AIPL1 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

Cone-rod dystrophy, 604393, Autosomal recessive (Cone rod dystrophy) (AIPL1 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

Cone-rod dystrophy, 604393, Autosomal recessive (Cone rod dystrophy) (MLPA)

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

Invitae Inherited Retinal Disorders Panel

Invitae
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Focused Inherited Retinal Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
3631
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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 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 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

Results: 1 to 20 of 58

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.