description
Rhizomelic chondrodysplasia punctata (RCDP) type 2 is caused by a deficiency of dihydroxyacetonephosphate-acyltransferase (DHAPAT), the first enzyme in the etherphospholipid (plasmalogen) biosynthesis route.
| Turn around time | | Postnatal analysis | 2 - 6 months | | Prenatal analysis | 2 - 3 weeks |
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| Price | | Whole gene analysis | € 650 | | Carrier analysis | € 350 | | Prenatal analysis | € 700 |
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materials
| material | Genomic DNA |
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| conditions | Do not heat the samples! |
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| specifics | The minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. The DNA samples should be sent in clearly labeled, tightly capped tubes (caps wrapped with parafilm) at room temperature (or with a cool pack) preferably by carrier service. |
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| material | blood |
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| min. amount | 2-5 ml |
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| conditions | Do not freeze or heat the samples! |
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| specifics | EDTA/Heparin blood samples 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 with a cool pack. Blood samples need to arrive in our laboratory within 3 days after drawing. |
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| material | Cultures of skin fibroblasts, lymphoblasts, chorionic villi or amniotic fluid cells |
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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 | Chorionic villus sample |
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| min. amount | ~15 mg and cleaned of maternal deciduas
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| conditions | |
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| specifics | Chorionic villus samples should be sent by express mail carrier service in a 15 ml conical tube filled with any sterile culture media in a Styrofoam shipping box with a cool pack. Cap the tube 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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