Information about the laboratory
Our laboratory provides investigation of inherited metabolic disorders and monitoring of treatment of patients with inherited metadolic diseases. Our catchment areas are Moravia and eastern part of Bohemia. In cooperation with the Department of Pediatrics and the Institute of Medical Genetics we provide comprehensive care for patients with inherited metadolic diseases.
Laboratory equipment
The laboratory is equipped with a range of analytical instruments for diagnostic and research tasks.
• LC-MS (equipment: AB SCIEX QTRAP® 5500 LC/MS/MS System; AB SCIEX API 4000™ LC/MS/MS System)
• Pegasus® 4D GCxGC-TOFMS
• automatic amino acid analyzer
• gas chromatography - mass spectrometry
• liquid chromatography
• capillary electrophoresis
• radiometry
• techniques of molecular biology (PCR, SSCP and DGGE)
• electrophoretic methods, electrofocusation, spectrophotometry, and others
Quality control of diagnostic activities
Since 1994, our laboratory successfully participates in all control systems in the European program of quality control diagnosis of inherited metabolic disorders - ERNDIM (European Research Network for Evaluation and Improvement of Screening Diagnosis and Treatment Inherited Disorders of Metabolism) - ERNDIM Quality Assurance Program, ERNDIM Diagnostic Proficiency Testing. - ERNDIM Quality Assurance Program, Proficiency Testing Diagnostic ERNDIM.
Follow-up care for patients diagnosed in our department
• Detailed diagnosis and treatment of patients with suspected metabolic disorders is performed at the ambulance at the Department of Pediatrics for IMD, University Hospital Olomouc (MUDr. V. Smolka, tel. 585852797)
• Genetic counseling is carried out in collaboration with the Institute of Medical Genetics, University Hospital Olomouc (Doc. MUDr. A. Šantavá, Csc., tel. 585854464)
• Care of acutely decompensated patients is provided by ICU - Department of Pediatrics, University Hospital Olomouc
Scientific activities and education of students
Our research work is focused on applications of new technologies in IMD diagnostics and purine and pyrimidine disorders.
Over 40 journal articles have been published, primarily in impacted international journals, 100 lectures and posters have been presented at international conferences and 55 at national conferences, all during the past five years.
Our publications were cited more than 200 times alltogether. Laboratory staff are co-authors of two foreign monographs. Over the past five years, 2 bachelor, 4 master and 4 PhD thesis were successfully completed in the fields of biochemistry, analytical chemistry and medical genetics. Thirteen grant projects was dealt during this period.