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Results: 1 to 11 of 11

Tests names and labsConditionsGenes, analytes, and microbesMethods

COL17A1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel

Invitae
United States
9545
  • D Deletion/duplication analysis

Invitae Corneal Dystrophies Panel

Invitae
United States
6533
  • D Deletion/duplication analysis

Epithelial recurrent erosion dystrophy, 122400, Autosomal dominant; ERED (Epithelial recurrent erosion dystrophy) (COL17A1 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

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skin and Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
12569
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dermatological. Full panel

Genologica Medica
Spain
12368
  • C Sequence analysis of the entire coding region

Corneal dystrophy panel. NGS panel of 27 genes.

Genologica Medica
Spain
4427
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa panel. NGS panel of 24 genes.

Genologica Medica
Spain
5524
  • C Sequence analysis of the entire coding region

COL17A1

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Corneal Dystrophy

Asper Biogene Asper Biogene LLC
Estonia
2520
  • C Sequence analysis of the entire coding region

Results: 1 to 11 of 11

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