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

  • U.O.C. Patologia Clinica - Laboratorio screening neonatale e malattie genetico-metaboliche
  • Dipartimento di Medicina Sperimentale
  • Policlinico Umberto I
  • Viale del Policlinico Umberto I 155
  • 00161 ROMA
  • ITALY
  • Director of laboratory : Dr Antonio ANGELONI
  • More information
  • Phone : 39 06 49975807
  • Additional Phone : 39 06 49975812
  • Fax : 39 06 49918278
  • Website
  • Contact
Last update: March 2019

Purpose(s)

Post-natal diagnosis
Newborn screening

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Biochemical genetics
Analyte / Enzyme assay
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List of diseases and genes

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