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Diagnosis of Pseudoxanthoma elasticum (ABCC6 gene)

  • Labor Dr. Wisplinghoff
  • laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
  • Horbeller Str. 18-20
  • 50858 KÖLN
  • GERMANY
  • Director of laboratory : Dr Uta WISPLINGHOFF
  • More information
  • Phone : 49 (0)221 940 505 0
  • Additional Phone : -
  • Fax : 49 (0)221 940 505 950
  • Website
Last update: May 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)
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.