Orphanet: Molecular and biochemical diagnosis of 2 Methylbutyryl CoA Dehydrogenase Deficiency ACADSB gene Organic Acids and Acylcarnitines

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Molecular and biochemical diagnosis of 2-Methylbutyryl-CoA Dehydrogenase Deficiency (ACADSB gene; Organic Acids and Acylcarnitines)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 31/05/2017
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Last update: May 2017

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing
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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