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Results: 1 to 19 of 19

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • 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

Blue cone monochromacy, opsin array

NEI Ophthalmic Genomics Laboratory National Institutes of Health
United States
13
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Blue cone monochromacy, 303700, X-linked recessive; BCM (Blue cone monochromatism) (OPN1LW 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

Colorblindness, protan, 303900, X-linked; CBP (Blue cone monochromatism) (OPN1LW 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

Achromatopsia

Amplexa Genetics Amplexa Genetics A/S
Denmark
110
  • S Mutation scanning of the entire coding region

MVL Vision Panel

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

Retinal Dystrophy Panel 

CGC Genetics Unilabs
Portugal
1306
  • 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

Hereditary Retinopathy Panel

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

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

Colorblindness: Full gene sequencing panel

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

Blue cone monochromacy: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
12
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Cone-rod dystrophy/Cone dystrophy: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
2422
  • C Sequence analysis of the entire coding region

Blue Cone Monochromacy Panel

Molecular Vision Laboratory
United States
32
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372283
  • C Sequence analysis of the entire coding region

Blue cone monochromatism

Molecular Genetics Laboratory Institute for Ophthalmic Research
Germany
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Results: 1 to 19 of 19

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.