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 acidemia: (C3/C0), (C3/C2), (C3/C16);
Short-chain acyl-CoA-dehydrogenase deficiency: (C4/C2), (C4/C3), (C5/C0);
Isovaleric acidemia: (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 acidemia: (C4DC/C2), (C4DC/C0);
Multiple carboxylase deficiency: (C3DC/C2), (C3DC/C0)

Amino acids (ISO 15189)

Method: LC-MS/MS
Diagnosis of: Amino acid metabolism disorders, PKU, evaluation of BH4 Response-Test and urine cycle defects
Material: Plasma and dried blood spots; 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 ((Val+Ile+Leu)/(Phe+Tyr)))


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

Sabrina Sailer, PhD
phone: +43 512 9003 70551