Fumarase deficiency or fumaric aciduria is a rare autosomal recessive metabolic disease which is characterized with excessive fumaric acid exretion in urine. Disease is caused by mutations in the FH gene. If only one mutation is present in the FH gene it will lead to Hereditary leiomyomatosis and renal cell cancer (HLRCC or Reed’s) syndrome.
Indications for molecular genetic testing are:
- final confirmation of diagnosis of fumarase deficiency (fumaric aciduria)
- carrier detection in family members in order to get genetic advice about future pregnancies and assess predisposition for HLRCC syndrome development
- confirm diagnosis of HLRCC (Reed’s) syndrome in patients with multiple cutaneous and uterine leiomyomatosis
Laboratory for molecular biomedicine conducts complete analysis of FH gene, as well as carrier detection in family members at risk for a known FH 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