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Results: 1 to 20 of 29

Tests names and labsConditionsGenes, analytes, and microbesMethods

KRT5 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • 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 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

Epidermolysis bullosa NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1323
  • 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

Epidermolysis bullosa simplex-MP, 131960, Autosomal dominant; EBSMP (Epidermolysis bullosa simplex with mottled pigmentation) (MLPA)

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

Epidermolysis bullosa simplex-MP, 131960, Autosomal dominant; EBSMP (Epidermolysis bullosa simplex with mottled pigmentation) (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

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

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

Epidermolysis bullosa NGS panel

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

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

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

KRT5 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
71
  • D Deletion/duplication analysis

Dermatological. Full panel

Genologica Medica
Spain
12368
  • 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

Epidermolysis Bullosa

Asper Biogene Asper Biogene LLC
Estonia
4825
  • C Sequence analysis of the entire coding region

KRT5

Institute for Human Genetics University Medical Center Freiburg
Germany
71
  • C Sequence analysis of the entire coding region

Dowling-Degos Disease (KRT5 Single Gene Test)

Fulgent Genetics
United States
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 29

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.