U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

DSG1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel

Invitae
United States
9545
  • D Deletion/duplication analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Keratosis palmoplantaris striata I, AD, 148700, Autosomal dominant (Focal palmoplantar keratoderma with joint keratoses) (DSG1 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

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Invitae
United States
223154
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Invitae Hyper IgE Syndrome Panel

Invitae
United States
1611
  • D Deletion/duplication analysis
  • 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

Palmoplantar Keratoderma

Asper Biogene Asper Biogene LLC
Estonia
1811
  • 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

DSG1

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Keratosis palmoplantaris striata I, AD

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

Ichthyoses and related disorders of cornification Panel

CeGaT GmbH
Germany
4265
  • C Sequence analysis of the entire coding region

DSG1 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.