遗传病
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遗传病检测系列
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Project:21-羟化酶缺乏症CYP21A2基因检测-Sanger
Specimen:受检者及其父母EDTA抗凝外周血各2ml
Inspection:长链PCR+Sanger
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Project:21-羟化酶缺乏症CYP21A2基因检测-MLPA
Specimen:受检者EDTA抗凝外周血2ml
Inspection:MLPA
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Project:色素失禁症IKBKG基因检测(综合解决方案)
Specimen:受检者及其父母EDTA抗凝外周血各2ml
Inspection:长链PCR+Sanger+qPCR
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Project:葡萄糖-6-磷酸脱氢酶缺乏症G6PD基因检测-Sanger
Specimen:受检者及其父母EDTA抗凝外周血各2ml
Inspection:Sanger
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Project:α地中海贫血HBA1/2基因检测-Sanger+MLPA
Specimen:受检者及其父母EDTA抗凝外周血各2ml
Inspection:Sanger+MLPA
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Project:β地中海贫血HBB基因检测-Sanger
Specimen:受检者及其父母EDTA抗凝外周血各2ml
Inspection:Sanger
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Project:脆性X综合征FMR1基因检测-PCR+毛细管电泳
Specimen:受检者EDTA抗凝外周血2ml
Inspection:PCR+毛细管电泳
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Project:脊髓小脑共济失调基因检测(9亚型)-PCR+毛细管电泳
Specimen:受检者EDTA抗凝外周血2ml
Inspection:PCR+毛细管电泳
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Project:亨廷顿舞蹈症HTT基因检测-PCR+毛细管电泳
Specimen:受检者EDTA抗凝外周血2ml
Inspection:PCR+毛细管电泳
Clinical:/ -
Project:Beckwith-Wiedemann综合征基因检测-MLPA
Specimen:受检者EDTA抗凝外周血2ml
Inspection:MLPA
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