disease
GM1 gangliosidosis
description
β-D-galactosidase is required for the degradation of GM1 gangliosides, galactose-containing oligosaccharides and keratan sulfate, and is deficient in GM1 gangliodisosis and Morquio B disease.
materials
| 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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| turn around time | 3 weeks |
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| price | Please inquire via gmz_enzym@amc.nl |
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| material | Skin biopsy - fibroblasts are cultured at lab GMD |
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| conditions | Do not freeze or heat the samples! |
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| specifics | If no fibroblasts are available yet, please send the skin biopsy in sterile culture medium without serum. The biopsy should be transported at room temperature by courier service within 48 – 72 hrs. |
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| turn around time | 3 weeks |
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| price | Please inquire via gmz_enzym@amc.nl |
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| material | Leukocytes isolated from whole blood (EDTA) at lab GMD |
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| conditions | Room temperature |
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| specifics | EDTA blood samples of patient and 1 control should be sent in clearly labeled, tightly capped tubes (incl. patient info), wrapped in protective material, placed in a sealed plastic bag and shipped by carrier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. |
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| turn around time | 3 weeks |
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| price | Please inquire via gmz_enzym@amc.nl |
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