Molecular diagnosis of cytochrome c oxidase deficiency (p.Glu140Lys in SCO2 gene)

Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.

Laboratory for molecular biomedicine uses sequencing to detect the most frequent SCO2 mutation - p.Glu140Lys.

Alternatively, the simultaneous analysis of all genes responsible for different types of cytochrome C oxidase deficiencies could be applied to speed up the diagnostic process (http://imgge.bg.ac.rs/index.php/en/services?layout=edit&id=1193).

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 10 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.

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CONTACT:

dr Maja Stojiljković

dr Sonja Pavlović

Tel: +381 11 3976 445

Mob: +381 65 3976 445

Fax: +381 11 3975 808

e-mail: zmzg@sezampro.rs