Department of Pediatrics and Inherited Metabolic Disorders
DMP Diagnostic Laboratories 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, 2022, a pilot screening program for spinal muscular atrophy (SMA) and the group of severe combined immunodeficiency diseases (SCID) was launched as part of neonatal screening, laboratory examination is performed by real-time quantitative polymerase chain reaction (PCR) (QR-PCR) . The rules for the implementation of the SMA / SCID pilot screening program are defined in the supplement to the Ministry of Health Bulletin No. 6/2016 Methodical instructions for the provision of neonatal laboratory screening and follow-up care, details of the project are given here.
From June 1, 2022, a pilot program of examination of vitamin B12 deficiency in newborns in four selected Prague maternity hospitals will be launched as part of neonatal screening. Details and consent to download here.
Detailed information on neonatal screening is provided at www.novorozeneckyscreening.cz.
Complete information on the services offered by DMP 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
DMP Biochemical Laboratory
DMP Enzymological Laboratory
DNA Diagnostic Laboratory of DMP
Laboratory of tissue cultures DMP
- Request for DMP tissue culture laboratory
- Instructions for taking and transporting a skin sample to establish a fibroblast culture
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