MMF has a long-standing interest and expertise in diagnostics and research within inborn errors of mitochondrial fatty acid and branched-chain amino acid oxidation. These disorders are rare and potentially treatable if diagnosed early, and they are part of newborn screening programs in many countries, including Denmark. MMF has played a central role in the establishment and genetic validation of the Danish newborn screening program for fatty acid oxidation disorders, and we are active members of the National Neonatal Screening Group, which ensures the quality and further development of neonatal screening in Denmark. MMF also provide genetic validation of newborn screening programs and patients in other countries. We provide genetic diagnostics for these disorders as a highly specialized function. The genetic analyses are accredited by DANAK (ISO 15 189). MMF participates in the external quality assessment program UK NEQAS for Molecular Genetics, which is offered by the Department of Laboratory Medicine, The Royal Infirmary of Edinburgh, NHS Lothian, Edinburgh, UK. We have a strong focus on communication with clinicians and biochemists about interpretation of genetic results for correct diagnostics and for prognostic and treatment options. As part of our research programs, MMF also offers genetic diagnostics for other inborn errors of mitochondrial metabolism and function. Please, find to the left a complete list of genetic diagnostic tests that are offered by MMF and the request forms. Please, contact our academic staff with any questions or for further information.

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


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