遺傳病
Inspection item query


遺傳病檢測系列
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Project:21-羥化酶缺乏癥CYP21A2基因檢測-Sanger
Specimen:受檢者及其父母EDTA抗凝外周血各2ml
Inspection:長鏈PCR+Sanger
Clinical:/ -
Project:21-羥化酶缺乏癥CYP21A2基因檢測-MLPA
Specimen:受檢者EDTA抗凝外周血2ml
Inspection:MLPA
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Project:色素失禁癥IKBKG基因檢測(綜合解決方案)
Specimen:受檢者及其父母EDTA抗凝外周血各2ml
Inspection:長鏈PCR+Sanger+qPCR
Clinical:/ -
Project:葡萄糖-6-磷酸脫氫酶缺乏癥G6PD基因檢測-Sanger
Specimen:受檢者及其父母EDTA抗凝外周血各2ml
Inspection:Sanger
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Project:α地中海貧血HBA1/2基因檢測-Sanger+MLPA
Specimen:受檢者及其父母EDTA抗凝外周血各2ml
Inspection:Sanger+MLPA
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Project:β地中海貧血HBB基因檢測-Sanger
Specimen:受檢者及其父母EDTA抗凝外周血各2ml
Inspection:Sanger
Clinical:/ -
Project:脆性X綜合征FMR1基因檢測-PCR+毛細管電泳
Specimen:受檢者EDTA抗凝外周血2ml
Inspection:PCR+毛細管電泳
Clinical:/ -
Project:脊髓小腦共濟失調基因檢測(9亞型)-PCR+毛細管電泳
Specimen:受檢者EDTA抗凝外周血2ml
Inspection:PCR+毛細管電泳
Clinical:/ -
Project:亨廷頓舞蹈癥HTT基因檢測-PCR+毛細管電泳
Specimen:受檢者EDTA抗凝外周血2ml
Inspection:PCR+毛細管電泳
Clinical:/ -
Project:Beckwith-Wiedemann綜合征基因檢測-MLPA
Specimen:受檢者EDTA抗凝外周血2ml
Inspection:MLPA
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