Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 1 to 20 of 42

Tests names and labsConditionsGenes and analytesMethods

Night blindness, congenital stationar type 1C

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

Invitae Inherited Retinal Disorders Panel

Invitae
United States
238248
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Stationary Night Blindness

Amplexa Genetics Amplexa Genetics A/S
Denmark
115
  • 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

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Panel

PreventionGenetics
United States
322304
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Stationary Night Blindness Panel

PreventionGenetics
United States
1817
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TRPM1 mutation analysis

Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
Netherlands
11
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
843637
  • D Deletion/duplication analysis

Nystagmus Xpanded Panel

GeneDx
United States
2826
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Xpanded Panel

GeneDx
United States
20856
  • C Sequence analysis of the entire coding region

TRPM1

Institute for Human Genetics University Clinic Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Ocular Disease Genes

Genomics For Life
Australia
1315
  • E Sequence analysis of select exons

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
11722
  • C Sequence analysis of the entire coding region

Night blindness, congenital stationary: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1413
  • C Sequence analysis of the entire coding region

Congenital Stationary Night Blindness NGS Panel

Fulgent Genetics
United States
2717
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NIGHT BLINDNESS, CONGENITAL STATIONARY NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
114
  • C Sequence analysis of the entire coding region

Congenital Stationary Night Blindness , Panel Massive Sequencing (NGS) 13 Genes

Reference Laboratory Genetics
Spain
1413
  • C Sequence analysis of the entire coding region

Eye Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
319207
  • D Deletion/duplication analysis

Congenital Stationary Night Blindness (CSNB) Sequencing Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
1715
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 42

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.

Support Center