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Results: 1 to 20 of 31

Tests names and labsConditionsGenes, analytes, and microbesMethods

Epidermolysis bullosa panel

Centogene AG - the Rare Disease Company
Germany
2822
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peeling skin syndrome type 4

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa Comprehensive panel

Connective Tissue Gene Tests
United States
1323
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ichthyosis Deletion / Duplication panel

Connective Tissue Gene Tests
United States
2028
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ichthyosis NGS panel

Connective Tissue Gene Tests
United States
2028
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ichthyosis Comprehensive panel

Connective Tissue Gene Tests
United States
2028
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epidermolysis bullosa NGS panel

Connective Tissue Gene Tests
United States
1323
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epidermolysis bullosa Deletion / Duplication panel

Connective Tissue Gene Tests
United States
1323
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peeling skin syndrome 4, 607936, Autosomal recessive; PSS4 (Exfoliative ichthyosis) (CSTA gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Peeling skin syndrome Deletion / Duplication panel

Connective Tissue Gene Tests
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peeling skin syndrome Comprehensive panel

Connective Tissue Gene Tests
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Peeling skin syndrome NGS panel

Connective Tissue Gene Tests
United States
77
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ichthyosis Comprehensive panel

Connective Tissue Gene Tests
United States
2028
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epidermolysis bullosa Deletion / Duplication panel

Connective Tissue Gene Tests
United States
1323
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ichthyosis NGS panel

Connective Tissue Gene Tests
United States
2028
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epidermolysis bullosa NGS panel

Connective Tissue Gene Tests
United States
1323
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ichthyosis Deletion / Duplication panel

Connective Tissue Gene Tests
United States
2028
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa Comprehensive panel

Connective Tissue Gene Tests
United States
1323
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Epidermolysis Bullosa (EB) XomeDx Slice

GeneDx
United States
128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 31

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.

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