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.
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)
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.