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Results: 1 to 20 of 30

Tests names and labsConditionsGenes, analytes, and microbesMethods

SERPINB8 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Ichthyosis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
7745
  • D Deletion/duplication analysis

Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel

Labcorp Genetics (formerly Invitae) LabCorp
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

Ichthyosis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2028
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ichthyosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2028
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ichthyosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2028
  • 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

Peeling skin syndrome 5, 617115, Autosomal recessive; PSS5 (Exfoliative ichthyosis) (SERPINB8 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

Peeling skin syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peeling skin syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Peeling skin syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
77
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ichthyosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2028
  • 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

Ichthyosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2028
  • 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

Ichthyosis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2028
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Results: 1 to 20 of 30

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.