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!

The following metabolites and their diagnostic ratios are reported and contained in the accreditation:
Alanine (only in plasma), Arginine, Asparagine, Aspartate, Glutamine, Glutamate, Glycine, Histidine, Isoleucine, Leucine, Lysine, Methionine, Ornithine, Phenylalanine, Proline, Serine, Taurine, Threonine, Tyrosine, Valine
The following metabolites are NOT contained in the accreditation but are reported as semiquantitative values:
Cystine

Phenylketonuria: Phe/Tyr; Fischer’s Ratio: BCAA/AAA ((Val+Ile+Leu)/(Phe+Tyr)))

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