遗传病
Inspection item query


遗传病检测系列
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Project:JunoMitoTM线粒体基因组测序
Specimen:受检者及其母亲EDTA抗凝外周血各2ml
Inspection:NGS
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Project:JunoScreenTM 遗传性疾病夫妻联合筛查
Specimen:夫妻双方EDTA抗凝外周血各2ml
Inspection:NGS
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Project:神经纤维瘤基因检测-NGS+Sanger
Specimen:受检者及其父母EDTA抗凝外周血各2ml
Inspection:NGS+Sanger
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Project:JunoScreenTM 十五种遗传病热点变异筛查
Specimen:受检者EDTA抗凝外周血2ml
Inspection:CNVplex
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Project:多囊肾基因检测-NGS+长PCR+Sanger
Specimen:受检者及其父母EDTA抗凝外周血各2ml
Inspection:NGS+长链PCR+Sanger
Clinical:/ -
Project:多囊肾PKD1/2基因检测-MLPA
Specimen:受检者EDTA抗凝外周血2ml
Inspection:MLPA
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Project:多囊肾基因检测(综合解决方案)
Specimen:受检者及其父母EDTA抗凝外周血各2ml
Inspection:NGS+长链PCR +Sanger +MLPA
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Project:先天性肾上腺皮质增生症基因检测(综合解决方案)
Specimen:受检者及其父母EDTA抗凝外周血各2ml
Inspection:NGS+长链PCR+Sanger +MLPA
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Project:听力障碍基因检测-NGS+Sanger
Specimen:受检者及其父母EDTA抗凝外周血各2ml
Inspection:NGS+Sanger
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Project:JunoBRCATM遗传性乳腺癌/卵巢癌综合征BRCA1/2基因检测-NGS+MLPA
Specimen:受检者EDTA抗凝外周血2ml
Inspection:NGS+MLPA
Clinical:/