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Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cataract 45, 616851, Autosomal recessive; CTRCT45 (Early-onset non-syndromic cataract) (SIPA1L3 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

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

Cataract

Amplexa Genetics Amplexa Genetics A/S
Denmark
147
  • S Mutation scanning of the entire coding region

SIPA1L3

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Cataract Panel 

CGC Genetics Unilabs
Portugal
1118
  • C Sequence analysis of the entire coding region

Non-syndromic congenital cataracts (sequence analysis of SIPA1L3 gene)

CGC Genetics Unilabs
Portugal
11
  • 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

Cataract Panel

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

Cataract: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
3837
  • C Sequence analysis of the entire coding region

Congenital Cataracts NGS Panel

Fulgent Genetics
United States
10656
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cataract

Asper Biogene Asper Biogene LLC
Estonia
4544
  • 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

SIPA1L3 Single Gene

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

Cataract Panel

CeGaT GmbH
Germany
2441
  • 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 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.