Orphanet: Diagnostik der heredit�ren sensorisch autonomen Neuropathien Schmerz assoziierte Erkrankungen NGS Panel, 30 Gene
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Diagnosis of hereditary sensory and autonomic neuropathies / pain associated disorder (NGS panel, 30 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: February 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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