Diagnostic Overview – Krakow University Hospital
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This HCP participates in the ERNDIM Quality Assessment scheme (2019)
| Krakow University Hospital
|
Centogene
|
| Contact Person mgr Piotr Pąchalski
A single genetic external laboratory
|
support@centoportal.com
|
Available molecular techniques:
| Krakow University Hospital
|
UNIWERSYTECKI SZPITAL DZIECIĘCY W KRAKOWIE
|
| Contact Person mgr Piotr Pąchalski
External laboratory
|
ppachalski@usdk.pl
|
Metabolite Tests |
|
| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids quantitative |
| Plasma
|
Amino acids quantitative |
| Organic Acids profile | |
| CSF | Aminoacids |
| S-adenosylhomocysteine | |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Plasma | Free fatty acids |
| 3-OH-butyrate and acetoacetate | |
| CSF | Sugars |
| Lysosomal Storage Disorders (LSD) | |
| Urine | Glycosaminoglycans quantitative |
| Mucopolysaccharide electrophoresis/TLC | |
| Plasma | IgG antibodies against recombinant enzymes (for MPS I, MPS II, MPS IVa, MPS VI, Fabry, Gaucher and Pompe). |
| Neutralizing antibodies, Fabry | |
| Peroxisomal Disorders (PD) | |
| Urine | Bile acid metabolites |
| Plasma | Cholesterol |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| No tests
|
No tests
|
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine | U-copper (24h) |
| Plasma | p-Copper |
| p-Ceruloplasmin | |
| CSF | Pipecolic acid |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |
| Urine | U-copper (24h) |
| Plasma | Porphyrins |
Enzyme Tests |
||
| Type of Disease | Yes or No | |
| Amino and organic acids disorders (AOA) | ||
| Aminoacidopathies | Yes | |
| Organic Acidurias | Yes | |
| Urea cycle disorders | No specified | |
| Fatty Acid Oxidation (C-FAO Disorders) | ||
| Glycogen storage diseases |
Yes | |
| Carbohydrate diseases other than Glycogen storage diseases |
Yes | |
| Fatty acid oxidation and carnitine transport disorders |
Not specified | |
| Disorders of Ketogenesis and Ketolysis | Yes | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses
|
Yes | |
| Sphingolipidoses | Yes | |
| Oligosaccharidosis | Yes | |
| Mucolipidoses | Not specified | |
| Lysosomal glycogen storage disease (Pompe disease) | Yes | |
| Peroxisomal Disorders (PD) | ||
| Peroxisome biogenesis | Not specified | |
| Single peroxisomal enzyme deficiencies | N/A | |
| Disorders of Cholesterol synthesis | Yes | |
| Bile Acid Synthesis | Yes | |
| Phospholipid and Glycosphingolipid Synthesis | Yes | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | ||
| N-glycosylation disorders | Yes | |
| O-glycosylation disorders | No | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | ||
| Neurotransmitter disorders | Yes | |
| Porphyrias | The analysis is done based on urine test of products
|
|
| Disorders of Purine and pyrimidine metabolism | N/A | |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | ||
| Creatine metabolism | Yes | |
| Pyruvate dehydrogenase | Yes | |
| TCA-cycle enzymes | Yes | |
| Respiratory chain disorders | N/A | |
Copyright ©2017-2021 all rights reserved