Department of Pediatrics and Inherited Metabolic Disorders
Labs
Operational Notice - Serum/Plasma Chitotriosidase Activity Assay
From September 1, 2024, there will be an operational change - determination of chitotriosidase activity in serum/plasma will be performed in the Biochemical Laboratory of Hereditary Metabolic Disorders. The reception of material is the same, all material for examination is received at the Central Reception of the DPM, Ke Karlovu 455/2, Prague 2, building E1a, ground floor. Attach the Biochemical Request Form, which is available on this page below, to the material for examination.
Diagnostic laboratories of hereditary metabolic disorders (DPM) carry out specialized laboratory examinations for the diagnosis and monitoring of patients in the field of biochemical genetics and related fields, screening of hereditary metabolic disorders in newborns born in cooperating maternity hospitals and provide continuous emergency service for selected statim examinations including medical consulting activities.
On January 1, 2024, newborn laboratory screening was expanded to include 2 more diseases – spinal muscular atrophy (SMA) and the group of severe combined immunodeficiency (SCID) diseases.
As of June 1, 2022, a pilot program to examine vitamin B12 deficiency in newborns was launched as part of newborn screening in four selected maternity hospitals in Prague. Details and consent to participate downloadable here.
Detailed information on neonatal screening is provided at www.novorozeneckyscreening.cz.
- Accreditation Certificate
- Certificate of Accreditation
- List of activities within the flexible scope of accreditation
- List of activities within the flexible scope of accreditation
Complete information about the services offered by DPM Diagnostic Laboratories is available in the current version Metabolic manuals:
- Metabolic manual
- Appendix 1 to the Metabolic Handbook
- Indication criterion - Danon's disease
- Indication criterion - Hypertrophic cardiomyopathy (PRKAG2)
- Indication criterion – Uromodulin
- Biological material sampling procedure
DPM Biochemical Laboratory
DPM Enzymology Laboratory
DPM DNA diagnostics laboratory
DPM tissue culture laboratory
- Application for the DPM tissue culture laboratory
- Instructions for taking and transporting a skin sample to establish a fibroblast culture
Sequencing Center
Laboratory for the Study of Mitochondrial Disorders
- Request for a laboratory for the study of mitochondrial disorders - biochemistry
- Application for laboratory for mitochondrial disorders - genetics
- Laboratory Manual - Laboratories for the Study of Mitochondrial Disorders