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Results: 1 to 20 of 40

Tests names and labsConditionsGenes, analytes, and microbesMethods

Choriodal dystrophy, central areolar 2, 613105, Autosomal dominant; CACD2 (Central areolar choroidal dystrophy) (MLPA)

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

Choriodal dystrophy, central areolar 2, 613105, Autosomal dominant; CACD2 (Central areolar choroidal 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

Choriodal dystrophy, central areolar 2, 613105, Autosomal dominant; CACD2 (Central areolar choroidal dystrophy) (PRPH2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

UPG Decarboxylase, WB

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • A Analyte

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

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

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

PRPH2 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
41
  • 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

Cone-Rod Dystrophy Panel

PreventionGenetics, part of Exact Sciences
United States
3735
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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

Results: 1 to 20 of 40

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.