Orphanet: Diagnosi del deficit di 2 metilbutirril CoA deidrogenasi gene ACADSB
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Diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency (ACADSB gene)

  • U.O.C. Genetica Clinica ed Epidemiologica
  • Dipartimento di Salute della Donna e del Bambino
  • Azienda Ospedaliera di Padova
  • Via Giustiniani 2
  • 35128 PADOVA PD
  • ITALY
  • Director of laboratory : Pr Maurizio CLEMENTI
  • More information
  • Phone : 39 049 8213513
  • Additional Phone : -
  • Fax : 39 049 8217619
  • Website
  • Contact
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)
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