Molecular diagnosis of Shwachman-Diamond syndrome

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. Disease is caused by mutations in SBDS gene.

Laboratory for molecular biomedicine conducts analysis of the second exon of the SBDS gene which contains the most frequent mutations: c.184A>T, c.258+2T>C i c.[184A>T; 258+2T>C]. Analysis of parents’ samples is needed for the accurate interpretation of results (thus, it is included in the price).

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.

For payment instructions, please contact us.

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