Diagnosis

Through our NHS Tayside partner laboratory at nearby Ninewells Hospital and Medical School, we are able to offer genetic diagnosis for inherited disorders of keratinization.

Specifically, we are able to offer accredited NHS testing for the following genes:

  • Connexins (GJB1-GJB6 and GJA1 genes, encoding Cx32, Cx26, Cx31, Cx30.3, Cx31.1, Cx30 and Cx43, respectively)
  • Desmoplakin (DSP)
  • Desmoglein-1 (DSG1)
  • Filaggrin (FLG)
  • Keratins (KRT1-KRT5, KRT9, KRT10, KRT12-KRT14)
  • Transglutaminase-5 (TGM5)

For further information, including a full list of genes and genetic tests offered, please contact Dr Ana Terron-Kwiatkowski (aterron-kwiatkowski@nhs.net).

In collaboration with the international Pachyonychia Congenita patient advocacy group PC Project, we offer an international genetic testing service for the following keratin genes:

  • KRT6A, KRT6B, KRT6C, KRT16, KRT17

For further details, please contact PC Project directly (pcproject@pachyonychia.org).