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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

TGM5 - NGS including CNV analysis

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

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa Comprehensive panel

HNL Genomics 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

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

Ichthyosis Comprehensive panel

HNL Genomics 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

HNL Genomics Connective Tissue Gene Tests
United States
1323
  • 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

Peeling skin syndrome Deletion / Duplication panel

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

Peeling skin syndrome Comprehensive panel

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

Ichthyosis Comprehensive panel

HNL Genomics 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

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

Ichthyosis Deletion / Duplication panel

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

Epidermolysis bullosa Comprehensive panel

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

Peeling Skin Syndrome via the TGM5 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epidermolysis Bullosa and Related Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
3118
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Acral Peeling Skin Syndrome (TGM5 Single Gene Test)

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

Ichthyosis NGS Panel

Fulgent Genetics
United States
9843
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TGM5 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

TGM5 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

Results: 1 to 20 of 20

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.