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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microphthalmia/Anophthalmia/Coloboma Panel

PreventionGenetics, part of Exact Sciences
United States
7355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433, Autosomal dominant; COB1 (Uveal coloboma-cleft lip and palate-intellectual disability) (YAP1 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

Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433, Autosomal dominant; COB1 (Uveal coloboma-cleft lip and palate-intellectual disability) (YAP1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Coloboma, ocular, 120433, Autosomal dominant (Uveal coloboma-cleft lip and palate-intellectual disability) (YAP1 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

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

Invitae
United States
13081
  • D Deletion/duplication analysis

Comprehensive Hearing Loss + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
218300
  • C Sequence analysis of the entire coding region

Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • 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 comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
367291
  • 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

YAP1 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
51294672
  • 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

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