Orphanet: Diagnostic du diabète monogénique, MODY, néonatal, syndromique et mitochondrial Panel
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Diagnosis of monogenic, MODY, neonatal, syndromic and mitochondrial diabtes, (Panel)

  • DIAGMOL - Laboratoire de Diagnostic Molculaire et Gnomique
  • BATLab - Btiment des Laboratoires
  • Hpitaux Universitaires de Genve HUG
  • Rue Gabrielle-Perret-Gentil 4
  • 1205 GENVE
  • SWITZERLAND
  • Director of laboratory : Dr Jean-Louis BLOUIN
  • More information
  • Phone : 0041 (0)22 372 18 26
  • Additional Phone : -
  • Fax : 0041 (0)22 372 18 60
  • Website
Last update: July 2019

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

Quality management

EQA
 EQA

EQA scheme(s) organized by CSCQ

Monogenic Diabetes (MonoDiab)
2017, 2018

EQA scheme(s) organized by EMQN

MonoDiab (Monogenic Diabetes)
2016, 2017, 2018
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.