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Results: 1 to 17 of 17 (representing 7 labs)

Tests names and labsConditionsGenes and analytesMethods

Epidermolysis Bullosa Simplex: KRT15 gene (exon-1,4,6)

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
11
  • E Sequence analysis of select exons

EPIDERMOLISIS BULLOSA SIMPLEX / WEBER-COCKAYNE / DOWLING-MEARA / KOEBNER TYPES

Laboratorio de Genetica Clinica SL
Spain
43
  • C Sequence analysis of the entire coding region

EB (Epidermolysis Bullosa) Deletion/Duplication panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
1320
  • D Deletion/duplication analysis

Epidermolysis bullosa simplex

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Genetic Epidermolyses and blistering disorders Panel

CeGaT GmbH
Germany
2319
  • C Sequence analysis of the entire coding region

CHST8 Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
31
  • D Deletion/duplication analysis

KRT5 Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • D Deletion/duplication analysis

KRT5 Gene Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PKP1 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

KRT14 Gene Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

EXPH5 Gene Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

DST Gene Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CHST8 Gene Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CDSN Gene Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
41
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

EBSeq Epidermolysis Bullosa Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
821
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa simplex due to plakophilin deficiency (sequence analysis of PKP1 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa simplex (sequence analysis of KRT5 gene)

CGC Genetics
Portugal
51
  • C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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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