Orphanet: Diagnostic de l_enc�phalopathie par d�ficit en GLUT1 Panel
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Diagnosis of encephalopathy due to GLUT1 deficiency (Panel)

  • Dpartement de Gntique
  • CHU Paris Nord-Val de Seine - Hpital Xavier Bichat-Claude Bernard
  • 46 rue Henri Huchard
  • 75018 PARIS
  • FRANCE
  • Director of laboratory : Pr Catherine BOILEAU
  • More information
  • Phone : 33 (0)1 40 25 85 45
  • Additional Phone : 33 (0)1 40 25 88 51
  • Fax : 33 (0)1 40 25 88 71
  • 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
MLPA based techniques
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
PCR based techniques
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)

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.