Noonan Syndrome Diagnosis Sped Up By New Genetic TestMain
Category: Genetics Also Included In: Pediatrics / Children's
Health Article Date: 04 Jul 2012 - 10:00 PST Noonan Syndrome
Diagnosis Sped Up By New Genetic Test |Patient / Public:| A new
gene test will greatly improve the speed and clarity of
diagnosis for a complex range of genetic disorders, known as
rasopathies, including Noonan Syndrome. The new test has been
developed by molecular diagnostic testing company NewGene in
collaboration with the South West Thames Regional Genetics
Service at St George's Healthcare NHS Trust in London, the
specialist centre for Noonan Syndrome and associated hereditary
disorders in the UK. Noonan Syndrome is an inherited disease
passed down through families that causes abnormal development in
children which is associated with a broad range of clinical
features. Approximately 80% of those affected by Noonan syndrome
suffer from congenital heart defects. Other effects can include
feeding problems in babies, distinctive fac