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Results: 1 to 20 of 32

Tests names and labsConditionsGenes, analytes, and microbesMethods

PAX6 gene mutation analysis

Genetics and Molecular Pathology SA Pathology
Australia
71
  • E Sequence analysis of select exons
  • 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

Comprehensive Cataracts Panel

PreventionGenetics, part of Exact Sciences
United States
157171
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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

Coloboma, Ocular: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
12
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cardiomyopathy NGS Panel

Fulgent Genetics
United States
450128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorders NGS Panel

Fulgent Genetics
United States
39283
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan and RASopathies NGS Panel

Fulgent Genetics
United States
23526
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Heart Defect NGS Panel

Fulgent Genetics
United States
377114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebral Cortical Malformation NGS Panel

Fulgent Genetics
United States
21042
  • 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

Glaucoma , Panel Massive Sequencing (NGS) 17 Genes

Reference Laboratory Genetics
Spain
3017
  • C Sequence analysis of the entire coding region

PUF60 Single Gene

Fulgent Genetics
United States
231
  • 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

POMK Single Gene

Fulgent Genetics
United States
561
  • 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

MAB21L2 Single Gene

Fulgent Genetics
United States
101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NRAS Single Gene

Fulgent Genetics
United States
1781
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PDE6D Single Gene

Fulgent Genetics
United States
421
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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.