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Results: 21 to 35 of 35

Tests names and labsConditionsGenes, analytes, and microbesMethods

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Congenital Cataract Gene Sequencing Panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
149
  • E Sequence analysis of select exons

Cataract Panel

GeneDx
United States
185
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • 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

Retinal Dystrophy Panel

Blueprint Genetics
Finland
1260
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel

Blueprint Genetics
Finland
354
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Eye Diseases - panels

MGZ Medical Genetics Center
Germany
6167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
379287
  • 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

Microphthalmia-Anophthalmia-Coloboma Complex (MAC)

MGZ Medical Genetics Center
Germany
248
  • C Sequence analysis of the entire coding region

HMX1 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Results: 21 to 35 of 35

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.