Noonan Syndrome Genetic Testing

What is Noonan Syndrome?

Noonan syndrome is a relatively common condition that affects 1 in 1000 to 1 in 2500 individuals. The signs and symptoms of Noonan syndrome are widely varied both clinically and genetically. Common features however, often include heart abnormalities, short stature and characteristic facial features. Up to one fourth of the children born with Noonan syndrome also have mild intellectual disability.

Individuals with Noonan syndrome are usually diagnosed at birth, however milder cases can go undiagnosed.

Noonan syndrome belongs to a group of related conditions, collectively known as RASopathy diseases.1 These conditions all have similar signs and symptoms and are caused by gene mutations that affect a well-studied and widely important cell signaling pathway called the RAS/MAPK pathway. This signaling pathway regulates a variety of cellular functions such as normal cell growth and division and is necessary for the proper formation of several types of tissue during embryonic and postnatal development.

For patients diagnosed with Noonan syndrome regular and detailed follow-ups are often needed to address the medical and developmental complications that follows with Noonan syndrome.

How is Noonan syndrome inherited and who is at risk?

Noonan syndrome is an autosomal dominant disorder, which means it can be inherited from affected parent to child. If a parent has a mutated gene that causes Noonan syndrome, each child has a 50% chance of inheriting it.

Who should get tested?

Any individual with a family history of Noonan syndrome or where a Noonan syndrome diagnosis is suspected due to clinical features consistent with clinical guidelines.

How is the testing performed at EasyDNA?

The Noonan Panel screens for mutations in 14 genes known to be related with Noonan syndrome:

A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1.

This screening test requires a medical blood draw from which DNA is extracted. Our testing is performed using Massive Parallel Sequencing (Next Generation Sequencing), which allows highly sensitive mutation detection and analysis of the coding regions of the 14 known Noonan genes, including exon-intron boundaries.

Results

The results from our Noonan Panel can aid in the often challenging diagnosis of patients with Noonan syndrome-like clinical features and/or patients with developmental syndromes. It can also be used to clarify the genetic risk for individuals with a family history of Noonan syndrome.

Important:

The Noonan screening panel requires genetic counselling from a certified professional and must be handled by a Doctor. Upon confirmation of your order we will send you an email with the Referral forms your doctor or counsellor will complete and return (Fax) to us for approval before your sample collection kit is sent out. The results will be sent directly to the doctor or counsellor who will then discuss them with you.

If you are a family member and/or would like to talk to a genetic counsellor, please contact our customer care team and they will help you to find a qualified professional for the test you are considering.

Your confirmation email will also include a recommendation for one of our affiliated Pathology Collection Centers close to you. We will arrange your appointment and book the courier to collect your samples after your appointment.

Note: Your only additional cost will be the blood collection fee that should be arranged with the sample collector during your pathology appointment.

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