Diagnostic

Diagnostic analysis

Screening Analysis:

Medium-chain acyl-CoA dehydrogenase (MCAD) defect

Very-long-chain acyl-CoA dehydrogenase (VLCAD) defect

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) defect

Mitochondrial Trifunctional Protein (MTP) defect

Isovaleryl-CoA dehydrogenase (IVD) defect or Isovaleric acidemia (IVA)

Other analysis:

Short-chain acyl-CoA dehydrogenase (SCAD) defect

Multipel acyl-CoA dehydrogenation defect (MADD)

Carnitine palmitoyltransferase 1A (CPT1A) defect

Carnitine palmitoyltransferase 2 (CPT2) defect

Acyl-CoA dehydrogenase 9 (ACAD9) defect

Isobutyryl-CoA dehydrogenase (IBD) defect

Short-branched chain acyl-CoA dehydrogenase (SBCAD) defect

Ethylmalonic Encephalopathy 1 (ETHE1) defect

Ethylmalonyl-CoA decarboxylase 1 (ECHDC1) defect

Heat Shock Protein 60/10 (HSP60/10) chaperone defect

MMF undertakes and continues to develop functions relating to genetic diagnosis and consultation for congenital defects in the mitochondrion fatty acid oxidation which are derived from the screening programmes for newborn babies in Denmark and abroad. The screening analyses carried out by MMF and affiliated with the neonatal screening programme in Denmark where ISO 15 189 were accredited in September 2013 through Blood Bank and Immunology, AUH and DANAK (The Danish Accreditation Fund,). MMF’s broad expertise with regard to genetic defects in mitochondrion proteins and research into the molecular pathogenesis as well as identification of new disease genes has the potential to expand to include molecular diagnostics of monogenetic diseases in mitochondrion functions more generally.

Requisition

Please contact MMF either by phone or E-mail before sending any samples.