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Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

PAX6 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel

Fulgent Genetics
United States
24478
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ANOPHTHALMIA/ MICROPHTALMIA

Laboratorio de Genetica Clinica SL
Spain
79
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Anophthalmia/microphthalmia

Department of Clinical Genetics Copenhagen University Hospital, Rigshospitalet
Denmark
1129
  • 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 Cataracts Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4632
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ALDH1A3 Single Gene

Fulgent Genetics
United States
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microphthalmy Panel

CeGaT GmbH
Germany
1326
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
173204
  • C Sequence analysis of the entire coding region

SOX2

MGZ Medical Genetics Center
Germany
21
  • C Sequence analysis of the entire coding region

OTX2

MGZ Medical Genetics Center
Germany
31
  • C Sequence analysis of the entire coding region

Male Factor Infertility

Asper Biogene Asper Biogene LLC
Estonia
9990
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Eye Disorders NGS Panel

Fulgent Genetics
United States
1018459
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PAX6-Related Anophthalmia

MGZ Medical Genetics Center
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SOX2 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.