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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

Coloboma, ocular, autosomal recessive, 216820, Autosomal recessive (Ocular coloboma) (SALL2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Anterior Segment Dysgenesis Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
272278
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Microphthalmia

Amplexa Genetics Amplexa Genetics A/S
Denmark
148
  • S Mutation scanning of the entire coding region

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

Labcorp Genetics (formerly Invitae) LabCorp
United States
13081
  • D Deletion/duplication analysis

Microphthalmia, Anophthalmia and Coloboma Panel 

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

Coloboma, Ocular: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
12
  • 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

Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel

Fulgent Genetics
United States
24478
  • 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

SALL2 Single Gene

Fulgent Genetics
United States
81
  • D Deletion/duplication analysis
  • 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

Clinical Exome

Fulgent Genetics
United States
51304674
  • 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: 1 to 15 of 15

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.