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Results: 1 to 13 of 13

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

Labcorp Genetics (formerly Invitae) LabCorp
United States
9545
  • D Deletion/duplication analysis

Olmsted syndrome, 614594, Autosomal dominant (Mutilating palmoplantar keratoderma with periorificial keratotic plaques) (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

Olmsted syndrome, 614594, Autosomal dominant (Mutilating palmoplantar keratoderma with periorificial keratotic plaques) (TRPV3 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Labcorp Genetics (formerly Invitae) LabCorp
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

TRPV3

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

Pachyonychia Congenita NGS Panel

Fulgent Genetics
United States
228
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pachyonychia Congenita Panel

Blueprint Genetics
Finland
37
  • D Deletion/duplication analysis
  • 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

TRPV3 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 13 of 13

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.