How do they test for Noonan syndrome 2024?

Max Thompson | 2023-04-20 18:30:37 | page views:1792
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Charlotte Hughes

Studied at the University of Lagos, Lives in Lagos, Nigeria.
You may be referred to a genetics specialist for genetic testing. In most cases, Noonan syndrome can be confirmed by a blood test for the various genetic mutations. However, in about 1 in 5 cases no specific mutation can be found, so a negative blood test will not rule out Noonan syndrome.
2023-04-24 18:30:37

Oliver Davis

QuesHub.com delivers expert answers and knowledge to you.
You may be referred to a genetics specialist for genetic testing. In most cases, Noonan syndrome can be confirmed by a blood test for the various genetic mutations. However, in about 1 in 5 cases no specific mutation can be found, so a negative blood test will not rule out Noonan syndrome.
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