U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 10 of 10

Tests names and labsConditionsGenes, analytes, and microbesMethods

TRPV3 - 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

Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400, Autosomal dominant; FNEPPK2 (Isolated focal non-epidermolytic palmoplantar keratoderma) (TRPV3 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 Ectodermal Dysplasia and Related Disorders Panel

Invitae
United States
14873
  • D Deletion/duplication analysis

Congenital pachyonychia panel. 7-gene NGS panel.

Genologica Medica
Spain
107
  • 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

Palmoplantar keratoderma, nonepidermolytic, focal 2: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • 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

TRPV3

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

Palmoplantar Keratoderma and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes

Reference Laboratory Genetics
Spain
86
  • C Sequence analysis of the entire coding region

Results: 1 to 10 of 10

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.