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Results: 1 to 20 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

POC1B Gene Cone-rod dystrophy type 20 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

MVL Vision Panel

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

POC1B - 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

Cone-rod dystrophy 20, 615973, Autosomal recessive; CORD20 (Cone rod dystrophy) (POC1B 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • 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

Cone Rod Dystrophies

Amplexa Genetics Amplexa Genetics A/S
Denmark
140
  • S Mutation scanning of the entire coding region

Cone-Rod Dystrophy 20 via the POC1B 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

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

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

Genomic Unity® Retinal Disorders Analysis

Variantyx, Inc.
United States
1394
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel 

CGC Genetics Unilabs
Portugal
1306
  • C Sequence analysis of the entire coding region

Neuro-Ophthalmology Panel 

CGC Genetics Unilabs
Portugal
1223
  • C Sequence analysis of the entire coding region

Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis)

CGC Genetics Unilabs
Portugal
1307
  • C Sequence analysis of the entire coding region

Ciliopathies Panel 

CGC Genetics Unilabs
Portugal
1178
  • C Sequence analysis of the entire coding region

Hereditary Retinopathy Panel

Mendelics
Brazil
1321
  • C Sequence analysis of the entire coding region

GLOBAL CILIOPATHIES EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1273
  • E Sequence analysis of select exons

JOUBERT SYNDROME EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
139
  • E Sequence analysis of select exons

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

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

Results: 1 to 20 of 45

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.