Operational Notice - Serum/Plasma Chitotriosidase Activity Assay
For targeted examination of chitotriosidase activity in serum/plasma, use the new request form, which is available in the DPM Biochemistry Laboratory section below on this page.

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.

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

• Application for the DPM biochemistry laboratory
• Request for dietary compensation examination
• Request for chitotriosidase testing

DPM Enzymology Laboratory

• Application for the DPM enzymology laboratory

DPM DNA diagnostics laboratory

• Application for the 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

• Application for the Sequencing Center
• List of investigated genes - NGS panels 

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

Informed consents for medical purposes

• Informed consent to genetic laboratory testing
• Informed consent to blood collection to check the laboratory examination of another patient
• Informed Consent - Superficial skin biopsy
• Consent to take and manage photos and videos
• Informed consent to use samples / data from neonatal screening