Description / Indication
Barth syndrome. Screening test in dried bloodspot, confirmation in lymphocytes, fibroblasts or tissue.
4 weeks (excl. culture time for fibroblasts).
Costs in case of fibroblast culturing are 200 euro's.
- Amount: 5 ml
- Conditions: room temperature
- Specifics: Blood samples need to arrive in our laboratory within 48 hours after drawing.
- Amount: 2 dried bloodspot, 40 µl of blood on a guthrie card.
- Conditions: Room temperature.
- Specifics: Either capillary or venous blood spots can be collected. When preparing venous blood spots from EDTA-anticoagulated blood, please spot 40 µl blood per spot on a Guthrie card. The Guthrie card should be air-dried at room temperature for 4 hours.
Cultured skin fibroblasts
- Conditions: Room temperature
- Specifics: Grow the fibroblasts to near confluence in a T-25 flask, fill the flask completely with sterile buffered (25mM Hepes) culture media supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information and date of collection, wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (25mM Hepes) culture medium without serum and antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
- Conditions: Dry ice
- Specifics: Isolated lymphocytes from EDTA/Heparin blood sample of patient and 1 control should be sent in clearly labeled, tightly capped tubes (incl. patient info), stored at -80 °C and subsequently shipped on dry ice to lab GMD.
- Conditions: Dry ice
- Specifics: First contact the laboratory specialist
* Note: Testing in this material is not covered by the accreditation of the laboratory.