Orphanet: Diagnostic de l_acid�mie m�thylmalonique avec homocystinurie type cblF, cblJ et cblX g�nes LMBRD1, ABCD4 et HCFC1
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Diagnosis of methylmalonicacidemia with homocystinuria, type cblF, cblJ, cblX (LMBRD1, ABCD4 and HCFC1 genes)

  • Laboratoire de Biochimie et de Biologie molculaire
  • CHU de Nancy - Hpitaux de Brabois
  • Rue du Morvan
  • 54511 VANDOEUVRE-LS-NANCY CEDEX
  • FRANCE
  • Director of laboratory : Pr Jean-Louis GUEANT
  • More information
  • Phone : 33 (0)3 83 15 44 84
  • Additional Phone : -
  • Fax : 33 (0)3 83 15 37 85
  • Website
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
PCR based techniques
Sequence analysis: entire coding region
Sanger sequencing
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