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Results: 1 to 20 of 41

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

IMPDH1 - NGS including CNV analysis

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

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 11, 613837; LCA11 (Leber congenital amaurosis) (MLPA)

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

Leber congenital amaurosis 11, 613837; LCA11 (Leber congenital amaurosis) (IMPDH1 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

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

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • 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

Invitae Purine Metabolism Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
2618
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Leber Congenital Amaurosis Panel

PreventionGenetics, part of Exact Sciences
United States
2728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leber Congential Amaurosis Panel (MitomeNGS)

Baylor Genetics
United States
3219
  • C Sequence analysis of the entire coding region

IMPDH1 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
21
  • T Targeted variant analysis

IMPDH1 Sequence Analysis

Baylor Genetics
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

IMPDH1 Deletion/Duplication Analysis

Baylor Genetics
United States
21
  • D Deletion/duplication analysis

IMPDH1 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 41

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.