description / indication
Barth syndrome. Screening test in dried bloodspot, confirmation in lymphocytes, fibroblasts or tissue
| Method | LC tandem MS |
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| Test frequency | 2 weeks (excl. culture time for fibroblasts) |
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| Price | € 140 |
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materials
| material | blood |
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| amount | 5 ml |
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| conditions | room temperature |
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| specifics | Blood samples need to arrive in our laboratory within 48 hours after drawing. |
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| material | bloodspot |
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| amount | 1 dried bloodspot, 40 µl of blood on a guthrie card |
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| conditions | room temperature |
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| material | Cultured fibroblasts |
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| conditions | Do not freeze or heat the samples! |
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| specifics | Grow the cells to near confluence in a T-25 flask, fill the flask completely with sterile culture media, cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information and date of collection, wrap in protective material and place in a sealed plastic bag in the Styrofoam shipping box. |
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| material | lymphocytes |
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| conditions | dry ice |
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| 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 minus 80 degrees Celsius (-80 ºC) and subsequently shipped on dry ice to lab GMD. |
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| material | tissue |
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| conditions | |
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| specifics | Contact metabolite diagnostics first |
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