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Results: 1 to 20 of 61 (representing 26 labs)

Tests names and labsConditionsGenes and analytesMethods

Axenfeld-Rieger Syndrome

Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
United States
31
  • C Sequence analysis of the entire coding region

Peters Anomaly

Centogene AG - the Rare Disease Company
Germany
11
  • 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

PITX2- Related Disorders via PITX2 Gene

PreventionGenetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PAX6. Complete sequencing

Instituto de Medicina Genomica
Spain
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

MitoMet®Plus aCGH Analysis

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

PAX6-Related Disorders - Del/dup Analysis

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
81
  • D Deletion/duplication analysis

PAX6-Related Disorders - PAX6 Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
81
  • C Sequence analysis of the entire coding region

Primary Congenital Glaucoma, Sequencing

ARUP Laboratories, Molecular Genetics and Genomics
United States
41
  • C Sequence analysis of the entire coding region

Axenfeld-Rieger Syndrome Type 1 , Sequencing PITX2 Gene

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

Eye diseases comprehensive panel

Asper Biotech Asper Biotech Ltd.
Estonia
351275
  • 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

Invitae WAGR Syndrome Test

Invitae
United States
182
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Septo-optic dysplasia

Molecular Vision Laboratory
United States
124
  • C Sequence analysis of the entire coding region

Invitae Congenital Cataracts Panel

Invitae
United States
4632
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Aniridia Test

Invitae
United States
91
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Anterior segment defects

Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
Denmark
1213
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 61

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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