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Diagnosis of congenital fiber-type disproportion myopathy (ACTA1, SEPN genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 09/08/2016
  • Institut für Humangenetik
  • Institut für Humangenetik am Universitätsklinikum Köln
  • Kerpener Str. 34
  • 50931 KÖLN
  • GERMANY
  • Director of laboratory : Pr Brunhilde WIRTH
  • More information
  • Phone : 49 (0)221 478 86464
  • Additional Phone : -
  • Fax : 49 (0)221 478 86465
  • Website
Last update: August 2016

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (2)

Additional information

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.