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Results: 21 to 40 of 105

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel

Invitae
United States
13081
  • D Deletion/duplication analysis

Glaucoma Panel

PreventionGenetics, part of Exact Sciences
United States
3824
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Axenfeld-Rieger Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
1410
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CYP1B1 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
11
  • C Sequence analysis of the entire coding region

Primary Congenital Glaucoma via the CYP1B1 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

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

Ocular anterior segment mesenchymal dysgenesis (WES based NGS panel of 18 genes, including analysis of CNVs)

CGC Genetics Unilabs
Portugal
118
  • C Sequence analysis of the entire coding region

Glaucoma Panel 

CGC Genetics Unilabs
Portugal
126
  • C Sequence analysis of the entire coding region

Microphthalmia, Anophthalmia and Coloboma Panel 

CGC Genetics Unilabs
Portugal
191
  • C Sequence analysis of the entire coding region

Congenital glaucoma (sequence analysis of CYP1B1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Congenital primary glaucoma 3A , Dysgenesis of the anterior segment of the eye, type 6 (deletion / duplication analysis on CYP1B1 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

InheriGenTx

BioReference Health
United States
174
  • T Targeted variant analysis

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

GeneSeq PLUS, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292597
  • C Sequence analysis of the entire coding region

Partner Reflex to GeneSeq

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

Inheritest 500 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

GLAUCOMA EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
150
  • E Sequence analysis of select exons

Results: 21 to 40 of 105

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.