Newborn screening

For all infants born in the area of the Czech Republic laboratory screening for neonatal congenital or hereditary diseases is performed. Each sample is taken by using dry blood spot method. The aim of newborn screening is rapid diagnosis and early treatment of infants with these diseases.

Nationwide, comprehensive and timely examination of all newborns is a prerequisite for the early detection and treatment of inherited metabolic disorders. Our screening center wants to serve this goal, along with all other interested clinics, doctors, birth attendants and pediatric outpatient departments.

Inherited metabolic disorders

At present there are 13 diseases tested in the Czech Republic:

  • Disturbances of amino acid metabolism
    • Phenylketonuria
    • Glutaric aciduria, Type I (glutaryl-CoA dehydrogenase deficiency)
    • Isovaleryl-CoA dehydrogenase deficiency (Isovaleric acidemia)
    • Maple syrup urine disease

  • Disorders of fatty acid oxidation
    • Carnitine uptake/transporter defects
      • Carnitine-acylcarnitine translocase deficiency
      • Carnitine palmitoyl transferase I deficiency (CPT I)
      • Carnitine palmitoyl transferase II deficiency (CPT II)
    • Very long chain acyl-CoA dehydrogenase deficiency (VLCADD)
    • Long chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
    • Medium chain acyl-CoA dehydrogenase deficiency (MCADD)

Interim results

Interim results of the first year of expanded newborn screening program (13 diseases)

 Expanded Screening of Inherited Metabolic Disorders

Positive predictive value 24%
False positive rate 0.08%
Detection rate PKU  1 : 6 539
Detection rate MCADD 1 : 11 700
Detection rate LCHADD 0
Detection rate GA I 1 : 58 852
Detection rate MSUD 1 : 117 705
Detection rate other 0

Quality of examinations

Our laboratory is certified according to EN ISO 9001:2000. Quality is controlled by a system of external quality control organized by the Centers for Diseases Control and Prevention, USA, 03/2009 results. For the area of subsequent diagnosis of the laboratory participates in pan-European system ERNDIM.
The pilot study took place in collaboration with University Hospital Ostrava.

Contacts and information about the examination

In case of any query please contact us at:

    Laboratory for inherited metabolic disorders
    OKB, University Hospital Olomouc
    I.P. Pavlova 6, 775 20 Olomouc
    Czech Republic

    Help line: +420588 445 910
    Telephone: +42058844 / 3231, 3228, 3229, 3230, 3232, 3234


  • Instrumentation

    • Tandem mass spectrometry - Detection of aminoacids and acyl carnitines from dry blood spots.