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Diagnosis of axonal hereditary motor and sensory neuropathy (gene panel)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 06/09/2017
  • Reference Laboratory Genetics
  • Reference Laboratory Genetics
  • Calle Pablo Iglesias 57
  • 08908 L'HOSPITALET DE LLOBREGAT
  • SPAIN
  • Director of laboratory : -
  • More information
  • Phone : 34 932593700
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: September 2017

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
PCR based techniques
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of diseases tested (78)
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.