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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218, Autosomal recessive; FVH2 (Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome) (SLC38A8 gene) (Sequence Analysis-All

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Nijmegen breakage syndrome (deletion/duplication analysis on NBN gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

MVL Vision Panel

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

SLC38A8 - 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

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Oculocutaneous Albinism Panel

Invitae
United States
2822
  • 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

Invitae Hypopigmentation Panel

Invitae
United States
8346
  • D Deletion/duplication analysis

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • 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

Hypopigmentation Panel

PreventionGenetics, part of Exact Sciences
United States
3933
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel

Invitae
United States
13081
  • D Deletion/duplication analysis

Isolated Foveal Hypoplasia Type 2 (FVH2) via the SLC38A8 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuro-ophthalmology panel. NGS panel of 38 genes.

Genologica Medica
Spain
7538
  • C Sequence analysis of the entire coding region

Foveal hypoplasia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

Foveal Hypoplasia and Presenile Cataract Syndrome Type 2 , Sequencing SLC38A8 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis

Asper Biogene Asper Biogene LLC
Estonia
3735
  • C Sequence analysis of the entire coding region

Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel

Molecular Vision Laboratory
United States
4529
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.