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Available diagnostic services:

Acylcarnitines (ISO 15189) 

Method: LC-MS/MS 

Diagnosis of: Organic acidurias and fatty acid oxidation defects 

Material: Plasma and dried blood spots 

We report the following metabolites and their diagnostic ratios:  

Total carnitine, C0, C2, C3, C3DC, C4, C4DC, C4OH, C5, C5:1, C5DC, C5OH, C6, C6DC, C8, C8:1, C8DC, C8OH, C10, C10:1, C10:2, C10DC, C10OH, C16, C16:1, C16OH, C18, C18:1, C181OH, C18:2, C18:3, C18OH, C20:4; Propionic academia: (C3/C0), (C3/C2), (C3/C16); Short-chain acyl-CoA-dehydrogenase deficiency: C4/C2), (C4/C3), (C5/C0); Isovaleric academia: (C5/C0), (C5/C2), (C5/C3); Medium-chain acyl-CoA-dehydrogenase deficiency: (C8/C2), (C8/C10), (C8/C12); Very long-chain acyl-CoA-dehydrogenase deficiency: (C14:1/C12:1), (C14:1/C2), (C14:1/C4), (C14:1/C6), (C14:1/C8): Long-chain acyl-CoA-dehydrogenase deficiency: (C14OH/C14), (C16OH/C16), (C18OH/C18); Carnitine palmitoyltransferase 1 deficiency: (C0/(C16+C18)); Carnitine palmitoyltransferase 2 deficiency: ((C16+C18:1)/C2); Glutaric aciduria type 1: (C5DC/C0), (C5DC/(C3DC+C4OH)), (C5DC/C16); Methylmalonic academia: (C4DC/C2), (C4DC/C0); Multiple carboxylase deficiency: (C3DC/C2), (C3DC/C0)

Amino acids (accreditation currently in progress)*

Method: LC-MS/MS 

Diagnosis of: Amino acid metabolism disorders, PKU, evaluation of BH4 Response-Test and urea cycle defects 

Material: Plasma and dried blood spot; Quantification of alanine is only possible in plasma! 

We report the following metabolites and their diagnostic ratios:  

Alanine (only in plasma), Arginine, Asparagine, Aspartate, Cystine, Glutamine, Glutamate, Glycine, Histidine, Isoleucine, Leucine, Lysine, Methionine, Ornithine, Phenylalanine, Proline, Serine, Taurine, Threonine, Tyrosine, Valine; Phenylketonuria: Phe/Tyr; Fischer’s Ratio: BCAA/AAA 

Lipidomics*

Cardiolipins, Phospholipids and Plasmalogens 

Method: LC-MS/MS 

Diagnosis of: Barth Syndrome, disorders in cellular lipid metabolism and peroxisomal defects 

Material: EDTA-Blood/dried blood spot/cells/tissues/biopsies; we offer also lipidomic analysis of lymphocytes (adults: 10 ml; newborns: 1,8 - 2 ml) 

* On a research basis, 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:

Sabrina Sailer, PhD
email: sabrina.sailer@i-med.ac.at
phone: +43 512 9003 70551