Orphanet: Diagnostic des pachyonychies cong��nitales g��nes KRT16, KRT17 et KRT6B

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Diagnosis of pachyonychia congenita (KRT16, KRT17 and KRT6B genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 13/02/2020
  • Phone : 33 (0)1 44 49 51 64
  • Additional Phone : 33 (0)1 44 38 15 07
  • Fax : 33 (0)1 71 19 64 20
  • Website
Last update: February 2020

Responsible of diagnostic test


Antenatal diagnosis
Pre-implantation diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (3)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.