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Results: 1 to 20 of 34

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

PRPH2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Macular Dystrophy Panel

Invitae
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

Macular dystrophy, patterned, 1, 169150, Autosomal dominant; MDPT1 (Butterfly-shaped pigment dystrophy) (MLPA)

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

Macular dystrophy, patterned, 1, 169150, Autosomal dominant; MDPT1 (Butterfly-shaped pigment dystrophy) (PRPH2 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

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

PRPH2 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PRPH2 Sequence Analysis

Baylor Genetics
United States
51
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PRPH2 Deletion/Duplication Analysis

Baylor Genetics
United States
51
  • D Deletion/duplication analysis

PRPH2 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
51
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

PRPH2 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
51
  • D Deletion/duplication analysis

Macular dystrophy panel. NGS panel of 26 genes.

Genologica Medica
Spain
5026
  • C Sequence analysis of the entire coding region

Rod and cone dystrophy panel. 42-gene NGS panel.

Genologica Medica
Spain
6541
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa panel

Genologica Medica
Spain
164108
  • C Sequence analysis of the entire coding region

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

Mottled Retinal Disorders Panel. 12-gene NGS panel.

Genologica Medica
Spain
2512
  • C Sequence analysis of the entire coding region

PRPH2

Institute for Human Genetics University Medical Center Freiburg
Germany
51
  • C Sequence analysis of the entire coding region

Macular dystrophy, patterned: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
33
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 34

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