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Results: 1 to 20 of 32

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • 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

Epidermolysis bullosa simplex, Koebner type, 131900, Autosomal dominant (Generalized epidermolysis bullosa simplex, non-Dowling-Meara type) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Epidermolysis bullosa simplex, Koebner type, 131900, Autosomal dominant (Generalized epidermolysis bullosa simplex, non-Dowling-Meara type) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Epidermolysis bullosa simplex, Koebner type, 131900, Autosomal dominant (Generalized epidermolysis bullosa simplex, non-Dowling-Meara type) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Epidermolysis bullosa simplex, Koebner type, 131900, Autosomal dominant (Generalized epidermolysis bullosa simplex, non-Dowling-Meara type) (KRT5 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

Epidermolysis bullosa simplex, Koebner type, 131900, Autosomal dominant (Generalized epidermolysis bullosa simplex, non-Dowling-Meara type) (KRT14 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

Epidermolysis bullosa simplex, Koebner type, 131900, Autosomal dominant (Generalized epidermolysis bullosa simplex, non-Dowling-Meara type) (KRT5 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

Epidermolysis bullosa simplex, Koebner type, 131900, Autosomal dominant (Generalized epidermolysis bullosa simplex, non-Dowling-Meara type) (KRT14 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

Epidermolysis bullosa simplex, Koebner type, 131900, Autosomal dominant (Generalized epidermolysis bullosa simplex, non-Dowling-Meara type) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Skin and Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
12469
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Ectodermal Dysplasia and Related Disorders Panel

Invitae
United States
14873
  • D Deletion/duplication analysis

Epidermolysis Bullosa Simplex (EBS) via the KRT14 Gene

PreventionGenetics, part of Exact Sciences
United States
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Epidermolysis Bullosa Simplex (EBS) via the KRT5 Gene

PreventionGenetics, part of Exact Sciences
United States
61
  • 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

KRT14 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
61
  • D Deletion/duplication analysis

Dermatological. Full panel

Genologica Medica
Spain
12268
  • C Sequence analysis of the entire coding region

Palmoplantar keratoderma panel. 25-gene NGS panel.

Genologica Medica
Spain
6225
  • 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

Results: 1 to 20 of 32

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