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Diagnosis of neurogenetic and neuromuscular diseases (NGS panel - 291 genes)

  • Institut fr Humangenetik
  • Universittsklinikum Aachen
  • Pauwelsstr. 30
  • 52074 AACHEN
  • GERMANY
  • Director of laboratory : Pr Ingo KURTH
  • More information
  • Phone : 49 (0)241 80 80178
  • Additional Phone : -
  • Fax : 49 (0)241 80 82580
  • Website
  • Contact
Last update: August 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (395)
List of genes tested (including panels) (285)

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.