Available diagnostic tests:
(Coming soon)
Acylcarnitines*
Method: LC-MS/MS
Organic acidurias and fatty acid oxidation defects
Material: Plasma
Cardiolipins*
Method: LC-MS/MS
Barth Syndrome
Material: Blood/Blood spots/Cells/Tissue
Phospholipids*
Method: LC-MS/MS
Disorders in cellular lipid metabolism
Material: Blood/Blood spots/Cells/Tissue
Plasmalogens*
Method: LC-MS/MS
Peroxisomal defects
Material: Blood/Blood spots/Cells/Tissue
*Tests are not yet included in the accreditation of the laboratory.
Sample Information
Please send the samples to:
Biochemische Genetik
Institut für Humangenetik der Medizinischen Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck (ZMGI)
Peter-Mayr-Straße 1 / 1.OG
6020 Innsbruck
Contact:
Gregor Ömer, PhD
email: gregor.oemer@i-med.ac.at
phone: +43 512 9003 70519