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Results: 1 to 20 of 117

Tests names and labsConditionsGenes, analytes, and microbesMethods

Retinal dystrophy panel

Laboratory of Human Genetics GENOMED Health Care Center
Poland
113
  • C Sequence analysis of the entire coding region

MVL Vision Panel

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

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CRB1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • 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

Invitae Macular Dystrophy Panel

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

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

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

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

Leber congenital amaurosis 8, 613835; LCA8 (Leber congenital amaurosis) (MLPA)

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

Leber congenital amaurosis 8, 613835; LCA8 (Leber congenital amaurosis) (CRB1 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

Pigmented paravenous chorioretinal atrophy, 172870, Autosomal dominant; PPCRA (Pigmented paravenous retinochoroidal atrophy) (MLPA)

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

Pigmented paravenous chorioretinal atrophy, 172870, Autosomal dominant; PPCRA (Pigmented paravenous retinochoroidal atrophy) (CRB1 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

Retinitis pigmentosa-12, autosomal recessive, 600105, Autosomal recessive; RP12 (Retinitis pigmentosa) (MLPA)

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

Retinitis pigmentosa-12, autosomal recessive, 600105, Autosomal recessive; RP12 (Retinitis pigmentosa) (CRB1 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

Results: 1 to 20 of 117

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.