遗传病
Inspection item query


遗传病检测系列
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Project:Silver-Russell综合征基因检测-MLPA
Specimen:受检者EDTA抗凝外周血2ml
Inspection:MLPA
Clinical:/ -
Project:肝豆状核变性ATP7B基因检测-Sanger
Specimen:受检者及其父母EDTA抗凝外周血各2ml
Inspection:Sanger
Clinical:/ -
Project:脊肌萎缩症携带者筛查
Specimen:受检者EDTA抗凝外周血2ml
Inspection:dLC-HRM
Clinical:/ -
Project:α+β地中海贫血基因热点变异筛查
Specimen:受检者EDTA抗凝外周血2ml
Inspection:Gap-PCR+Sanger
Clinical:/ -
Project:遗传性耳聋基因热点突变筛查(9位点)
Specimen:受检者EDTA抗凝外周血2ml
Inspection:Sanger
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Project:遗传性耳聋基因热点突变筛查(28位点)
Specimen:受检者EDTA抗凝外周血2ml
Inspection:核酸质谱
Clinical:/ -
Project:Y染色体AZF微缺失检测-PCR
Specimen:受检者EDTA抗凝外周血2ml
Inspection:PCR+凝胶电泳
Clinical:/ -
Project:常规染色体核型分析(400带)
Specimen:受检者肝素抗凝外周血4ml
Inspection:核型
Clinical:/ -
Project:高分辨率染色体核型分析(550带)
Specimen:受检者肝素抗凝外周血4ml
Inspection:核型
Clinical:/ -
Project:JunoWGSTM 核心家系全基因组测序
Specimen:受检者及其父母EDTA抗凝外周血各2ml
Inspection:NGS
Clinical:/