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How is Noonan Syndrome diagnosed?

See how Noonan Syndrome is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Noonan Syndrome

Noonan Syndrome diagnosis
5 answers
Sometimes it's diagnosed genetically after someone is suspected of having noonans syndrome,this may take a few months to get the full results, other times a result may come back inconclusive but the geneticists agree that noonans is still the cause ,usually based on specific heart problems, facial characteristics, weight gain problems ,eye problems ,e tv this would be a clinical diagnosis

Posted May 8, 2017 by Nicola 600
ns is diagnosed with genetics blood testing. at chp of Pittsburgh the genetics department meets with the family and takes a detailed history. they send blood samples for testing. NS is passed through the generations. a pediatric specialist will know more about syndroms than a run of the mill pediatrician. know this from experience. coordination with your pediatrician and a team of specialists will guarantee your family a great experience. childrens hospital not only treats the disease/condition, they treat the person/family emotionally and mentally.

Posted May 9, 2017 by Bree 1200
Genetic testing

Posted May 19, 2017 by Tanya 2000
Bloodwork under the care of a geneticist.

Posted May 19, 2017 by 400
A diagnosis of Noonan syndrome is usually made after a doctor observes some key signs, but this can be difficult because some features are subtle and hard to identify. Sometimes, Noonan syndrome isn't diagnosed until adulthood, only after a person has a child who is more obviously affected by the condition. Molecular genetic testing can help confirm a diagnosis.

If there's evidence of heart problems, a doctor who specializes in heart conditions (cardiologist) can assess the type and severity.

Posted Dec 31, 2018 by Lachlan croucher 3000

Noonan Syndrome diagnosis

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World map of Noonan Syndrome

Find people with Noonan Syndrome through the map. Connect with them and share experiences. Join the Noonan Syndrome community.

Stories of Noonan Syndrome

NOONAN SYNDROME STORIES
Noonan Syndrome stories
i was born premature to a mom who lived a very unhealthy lifestyle so even though I was really small and sick, no one really thought much of it. soon they had to take it seriously because I was only getting worse not better.  The older I got,  the...
Noonan Syndrome stories
My Little Lily was born in 2016. She is a twin. Her sisters name is Anna. We all got a surprise when Lily was born as we were expecting her to be a 7.5lb baby but she was only 4lbs14oz. She had trouble feeding as she wouldn't latch and then her blood...
Noonan Syndrome stories
       my name is bree. my daughter and fiance have noonan syndrome. Arraya was diagnosed at 6 weeks of age with failure to thrive, supravalvular pulmonary stenosis, bilateral cleft palette, poor latch on. the first year of her life we traveled...
Noonan Syndrome stories
I am 22 I live on my own I have had 21 surgeries, heart-HOCM-now have and ICD, eyes, ears-now have a BAHA I have a drivers license
Noonan Syndrome stories
I was diagnosed at age 12 because of my short stature. I have a cardiac malformation but not usually related to Noonan syndrom. I'm small but at least the same height as my parents, 5 feet 6 inches ! The geneticist found right away which syndrom I ha...

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