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Diagnosis of pachyonychia congenita (KRT6A, KRT16, KRT6B, KRT6C and KRT17 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 23/10/2018
  • LabGenetics
  • LabGenetics - Laboratorio de Genética Clínica, S.L.
  • Calle Poeta Rafael Morales, 2, 2ª planta
  • 28702 SAN SEBASTIÁN DE LOS REYES
  • SPAIN
  • Director of laboratory : Dr Jorge PUENTE PRIETO
  • More information
  • Phone : 34 916 59 22 98
  • Additional Phone : -
  • Fax : 34 916 59 22 99
  • Website
  • Contact
Last update: October 2018

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (2)
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Pachyonychia congenita
List of genes tested (including panels) (5)
KRT16
KRT17
KRT6A
KRT6B
KRT6C
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.