DeNovo gene mutation
De Novo Gene Mutation pictures

Conditions that can be detected by De Novo gene mutation screening (Vistara).

These conditions cannot detected by safeT21, NIFTY, Harmony, Panorama etc.

可通過Vistara (基因突變篩查檢)測到的健康狀況。safeT21, NIFTY, Harmony, Panorama 無法篩選出這些健康狀況。

Affecting 1 in 600 babies, more than Down syndrome.  影響1/600嬰兒,超過唐氏綜合症。

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Achondroplasia 軟骨發育不全 (侏儒症)

 

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Leukemia 白血病

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Sotos Syndrome 索托斯綜合症 (大頭綜合症)

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Pfeiffer Syndrome (Pfeiffer綜合徵)

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Apert Syndrome 開口綜合症

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Leopard Syndrome 豹綜合症

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Rett Syndrome 雷特綜合症

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Tuberous Sclerosis 結節性硬化症

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Tuberous Sclerosis 結節性硬化症

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Image result for noonan syndrome

Noonan syndrome 諾南/努南綜合症

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Menkes syndrome 門克斯綜合症

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Osteogenic Imperfecta 成骨不全 (玻璃骨)

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Image result for Jackson Weiss syndrome

Jackson Weiss syndrome 傑克遜韋斯綜合症