遺傳病
Inspection item query


遺傳病檢測系列
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Project:JunoMitoTM線粒體基因組測序
Specimen:受檢者及其母親EDTA抗凝外周血各2ml
Inspection:NGS
Clinical:/ -
Project:JunoScreenTM 遺傳性疾病夫妻聯合篩查
Specimen:夫妻雙方EDTA抗凝外周血各2ml
Inspection:NGS
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Project:神經纖維瘤基因檢測-NGS+Sanger
Specimen:受檢者及其父母EDTA抗凝外周血各2ml
Inspection:NGS+Sanger
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Project:JunoScreenTM 十五種遺傳病熱點變異篩查
Specimen:受檢者EDTA抗凝外周血2ml
Inspection:CNVplex
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Project:多囊腎基因檢測-NGS+長PCR+Sanger
Specimen:受檢者及其父母EDTA抗凝外周血各2ml
Inspection:NGS+長鏈PCR+Sanger
Clinical:/ -
Project:多囊腎PKD1/2基因檢測-MLPA
Specimen:受檢者EDTA抗凝外周血2ml
Inspection:MLPA
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Project:多囊腎基因檢測(綜合解決方案)
Specimen:受檢者及其父母EDTA抗凝外周血各2ml
Inspection:NGS+長鏈PCR +Sanger +MLPA
Clinical:/ -
Project:先天性腎上腺皮質增生癥基因檢測(綜合解決方案)
Specimen:受檢者及其父母EDTA抗凝外周血各2ml
Inspection:NGS+長鏈PCR+Sanger +MLPA
Clinical:/ -
Project:聽力障礙基因檢測-NGS+Sanger
Specimen:受檢者及其父母EDTA抗凝外周血各2ml
Inspection:NGS+Sanger
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Project:JunoBRCATM遺傳性乳腺癌/卵巢癌綜合征BRCA1/2基因檢測-NGS+MLPA
Specimen:受檢者EDTA抗凝外周血2ml
Inspection:NGS+MLPA
Clinical:/