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Results: 1 to 20 of 39

Tests names and labsConditionsGenes and analytesMethods

Axenfeld-Rieger syndrome type 3

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

Axenfeld-Rieger syndrome type 3

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

Axenfeld-Rieger syndrome type 3

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

Axenfeld-Rieger syndrome type 3

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
2612
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Axenfeld-Rieger Syndrome Sequencing Panel

PreventionGenetics
United States
116
  • 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

FOXC1 mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
11
  • C Sequence analysis of the entire coding region

PITX2. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

FOXC1. Complete sequencing Secuenciación completa

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

PITX2. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

FOXC1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
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

AXENFELD-RIEGER SYNDROME (RIEGER DISEASE)

Laboratorio de Genetica Clinica SL
Spain
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Axenfeld-Rieger Syndrome Type 3 , Deletions-Duplications (MLPA) FOXC1 Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Axenfeld-Rieger Syndrome Type 3 , 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

Results: 1 to 20 of 39

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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