Orphanet: Diagn�stico de la deficiencia de 2 metilbutiril CoA deshidrogenasa gen ACADSB

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Diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency (ACADSB gene)

  • Centro de Diagnstico de Enfermedades Moleculares
  • Universidad Autnoma de Madrid. Facultad de Ciencias
  • Calle Francisco Toms y Valiente, 7
  • Director of laboratory : Pr Magdalena UGARTE PREZ
  • More information
  • Phone : 34 914974589
  • Additional Phone : 34 914974868
  • Fax : 34 914974863
  • Website
Last update: February 2019

Responsible of diagnostic test


Antenatal diagnosis
Post-natal diagnosis
Newborn screening

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Biochemical genetics
Analyte / Enzyme assay

List of diseases and genes

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