Cardiolipins

Description / Indication

Functional test for Barth syndrome in blood spot. This material is preferred and is sufficient to rule out/confirm Barth syndrome. Also possible in lymphocytes, fibroblasts and tissue.

Method

HPLC-MS/MS

TAT

4 weeks (excl. culture time for fibroblasts).

Price

€ 216
Costs in case of fibroblast culturing are 278 euro's.

Test request form Metabolite diagnostics

Test request form Metabolite diagnostics.pdf
1.686 Kb
V6

Materials:

Blood spots

  • 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.

Blood

  • Amount: 5 ml
  • Conditions: room temperature
  • Specifics: Blood samples need to arrive in our laboratory within 48 hours after drawing.

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.

Lymphocytes

  • 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.

Tissue *

  • Conditions: Dry ice
  • Specifics: First contact the laboratory specialist

* Note: Testing in this material is not covered by the accreditation of the laboratory.