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Results: 1 to 20 of 25 (representing 11 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa panel

Centogene AG - the Rare Disease Company
Germany
2822
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epidermolysis Bullosa Simplex (EBS) via the KRT14 Gene

PreventionGenetics
United States
61
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Epidermolysis Bullosa with Pyloric Atresia via the ITGB4 Gene

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

Epidermolysis Bullosa and Related Disorders Sequencing Panel

PreventionGenetics
United States
2615
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ITGB4

Institute for Human Genetics University Clinic Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Single gene testing KRT5

CeGaT GmbH
Germany
71
  • C Sequence analysis of the entire coding region

EPIDERMOLYSIS BULLOSA

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1610
  • C Sequence analysis of the entire coding region

KRT5

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

KRT14

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

Epidermolysis bullosa simplex (NGS panel for 4 genes)

CGC Genetics
Portugal
34
  • 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

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

KRT14

Fulgent Genetics
United States
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KRT5

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

ITGB4

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 25

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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