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Results: 1 to 20 of 25

Tests names and labsConditionsGenes and analytesMethods

Iridogoniodysgenesis, type 1

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

Cataract panel

Centogene AG - the Rare Disease Company
Germany
4845
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glaucoma Sequencing Panel

PreventionGenetics
United States
2817
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Axenfeld-Rieger Syndrome Sequencing Panel

PreventionGenetics
United States
139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FOXC1-Related Disorders via the FOXC1 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

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

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
4023
  • D Deletion/duplication analysis

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes)

CGC Genetics
Portugal
1818
  • C Sequence analysis of the entire coding region

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes)

CGC Genetics
Portugal
1818
  • C Sequence analysis of the entire coding region

Iridogoniodysgenesis Type 1 , Sequencing FOXC1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Early-Onset Glaucoma Panel

Invitae
United States
123
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glaucoma

Asper Biogene Asper Biogene LLC
Estonia
1920
  • C Sequence analysis of the entire coding region

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis

Asper Biogene Asper Biogene LLC
Estonia
3735
  • C Sequence analysis of the entire coding region

Glaucoma (Advance)

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3734
  • C Sequence analysis of the entire coding region

Single gene testing FOXC1

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

Developmental Eye Disease panel

Molecular Vision Laboratory
United States
10959
  • C Sequence analysis of the entire coding region

FOXC1

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hearing Loss: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
15992
  • C Sequence analysis of the entire coding region

Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
321207
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 25

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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