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Results: 21 to 40 of 47

Tests names and labsConditionsGenes, analytes, and microbesMethods

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 with Pyloric Atresia via the ITGB4 Gene

PreventionGenetics, part of Exact Sciences
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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
12368
  • 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

Epidermolysis Bullosa

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

KRT14

Institute for Human Genetics University Medical Center Freiburg
Germany
61
  • C Sequence analysis of the entire coding region

Comprehensive Glomerular Proteinuria NGS Panel

Fulgent Genetics
United States
18276
  • D Deletion/duplication analysis
  • 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

Epidermolysis Bullosa , Panel Massive Sequencing (NGS) 8 Genes

Reference Laboratory Genetics
Spain
168
  • C Sequence analysis of the entire coding region

EPIDERMOLISIS BULLOSA: EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
2622
  • C Sequence analysis of the entire coding region

Epidermolysis Bullosa , Deletions-Duplications (MLPA) KRT14, LAMA3, LAMB3, LAMC2 Genes

Reference Laboratory Genetics
Spain
64
  • D Deletion/duplication analysis

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

Laboratorio de Genetica Clinica SL
Spain
54
  • C Sequence analysis of the entire coding region

Single gene testing KRT5

CeGaT GmbH
Germany
71
  • 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

ITGB4 Deletion/duplication analysis

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

Results: 21 to 40 of 47

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.