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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