Orphanet: Diagn�stico de la neuropat�a axonal hereditaria sensitivo motora panel de genes
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Diagnosis of axonal hereditary motor and sensory neuropathy (gene panel)

  • 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 : -
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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)

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

SMA (Spinal muscular atrophy)
2014
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