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Results: 1 to 20 of 27 (representing 13 labs)

Tests names and labsConditionsGenes and analytesMethods

Cone-rod dystrophy type 12

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PROM1 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
41
  • T Targeted variant analysis

PROM1 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
41
  • D Deletion/duplication analysis

PROM1 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PROM1 Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
41
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cone-Rod Dystrophy Sequencing Panel

PreventionGenetics
United States
2726
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

'Bull's Eye' Macular Dystrophy (BEM), Cone-rod dystrophy 12 (CORD12), Retinitis Pigmentosa 41 (RP41) and Stargardt Disease 4 (STGD4) via the PROM1 Gene

PreventionGenetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
351275
  • C Sequence analysis of the entire coding region

PROM1

Institute for Human Genetics University Clinic Freiburg
Germany
41
  • C Sequence analysis of the entire coding region

Cone rod dystrophy

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3530
  • C Sequence analysis of the entire coding region

Single gene testing PROM1

CeGaT GmbH
Germany
41
  • C Sequence analysis of the entire coding region

Cone Rod Dystrophy panel

Molecular Vision Laboratory
United States
5133
  • C Sequence analysis of the entire coding region

Cone-rod dystrophy (NGS panel of 36 genes)

CGC Genetics
Portugal
3036
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372287
  • C Sequence analysis of the entire coding region

Cone Rod Dystrophies Panel

CeGaT GmbH
Germany
1440
  • C Sequence analysis of the entire coding region

Stargardt Panel

Molecular Vision Laboratory
United States
2813
  • C Sequence analysis of the entire coding region

Cone-Rod Dystrophy

Asper Biogene Asper Biogene LLC
Estonia
2730
  • C Sequence analysis of the entire coding region

PROM1

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
9864
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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.

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