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Results: 1 to 19 of 19 (representing 10 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 dystrophica, autosomal recessive - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Dystrophic Epidermolysis Bullosa (DEB) via the COL7A1 Gene

PreventionGenetics
United States
71
  • 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

COL7A1

Institute for Human Genetics University Clinic Freiburg
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

EB (Epidermolysis Bullosa) Deletion/Duplication panel

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

CarrierMap

Recombine
United States
300298
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epidermolysis bullosa dystrophica (NGS panel for 2 genes)

CGC Genetics
Portugal
22
  • C Sequence analysis of the entire coding region

Dystrophic Epidermolysis Bullosa (sequence analysis of COL7A1 gene)

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

COL7A1 Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
71
  • D Deletion/duplication analysis

MMP1

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

COL7A1

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

Epidermolysis Bullosa NGS Panel

Fulgent Genetics
United States
3513
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa (sequence analysis of exons 73 to 75 of COL7A1 gene)

CGC Genetics
Portugal
11
  • E Sequence analysis of select exons

Results: 1 to 19 of 19

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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