Molecular diagnosis of tyrosine hydroxylase deficiency

Tyrosine hydroxylase deficiency is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. Disease is autosomal recessive and it is caused by mutations in the TH gene.

Indications for molecular genetic testing are:

  • final confirmation of diagnosis of tyrosine hydroxylase deficiency
  • carrier detection in family members in order to get genetic advice about future pregnancies

Laboratory for molecular biomedicine conducts complete analysis of TH gene, as well as carrier detection in family members at risk for a known mutation. These analyses are based on sequencing and do not include detection of large deletions or duplications.

It is necessary to deliver 2.5 ml of peripheral blood using 3.8% sodium citrate as anticoagulant. It is possible to deliver a blood sample that has already been frozen. The samples are accepted every day from 10 to 13h. There is possibility to deliver the sample via post express service. The analysis is performed within 20 working days. The results and the bill are sent to the patient's home address, or can be collected personally at the Institute from 10 to 16h every day.

For payment instructions, please contact us.


dr Maja Stojiljković

dr Sonja Pavlović

Tel: +381 11 3976 445

Mob: +381 65 3976 445

Fax: +381 11 3975 808


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