遺傳病
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遺傳病檢測系列
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Project:杜氏肌營養(yǎng)不良DMD基因檢測-MLPA
Specimen:受檢者EDTA抗凝外周血2ml
Inspection:MLPA
Clinical:/ -
Project:杜氏肌營養(yǎng)不良DMD基因檢測-NGS
Specimen:受檢者及其父母EDTA抗凝外周血各2ml
Inspection:NGS
Clinical:/ -
Project:杜氏肌營養(yǎng)不良DMD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:MLPA+NGS
Clinical:/ -
Project:Prader-Willi/Angelman綜合征基因檢測-MLPA
Specimen:受檢者EDTA抗凝外周血2ml
Inspection:MS-MLPA
Clinical:/ -
Project:脊肌萎縮癥SMN1/2基因檢測-MLPA
Specimen:受檢者EDTA抗凝外周血2ml
Inspection:MLPA
Clinical:/ -
Project:脊肌萎縮癥SMN1基因檢測-Sanger
Specimen:受檢者EDTA抗凝外周血2ml
Inspection:長鏈PCR+Sanger
Clinical:/ -
Project:Rett綜合征MECP2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:MLPA+Sanger
Clinical:/ -
Project:Rett綜合征MECP2基因檢測-MLPA
Specimen:受檢者EDTA抗凝外周血2ml
Inspection:MLPA
Clinical:/ -
Project:Rett綜合征MECP2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:21-羥化酶缺乏癥CYP21A2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+MLPA
Clinical:/