Noonan syndrome Sequencing

Noonan syndrome is a genetic disorder characterized by a series of birth defects including dysmorphic facial features, short stature after birth, webbing of the neck, caved-in chestbone, cardiovascular problems such as pulmonic stenosis and hypertrophic cardiomyopathy, bleeding tendency and, in boys, testes that do not descend normally into the scrotum.

NS is an autosomal dominant disorder that carries an elevated risk of developmental and language delay, learning disability, hearing loss, and mild mental retardation. The syndrome is relatively common, with an estimated incidence of 1 in 1,000-2,500 live births. We provide testing for the mutations listed below that are thought to cause Noonan syndrome.

Noonan syndrome PTPN11 chromosome locus 12q24.1 CPT Code: 81406 Cost $1193.00

Noonan syndrome 3 KRAS chromosome locus 12p12.1 CPT Code: 81405 Cost $763.00

Noonan syndrome 4 SOS1 chromosome locus 2p22-p21 CPT Code: 81406 Cost $1193.00

Noonan syndrome 5 RAF1 chromosome locus 3p25 CPT Code: 81406 Cost$ 333.00

Noonan syndrome NRAS CPT Code: 81404 Cost $1193.00

We can reflex to sequence each gene, to do all five total cost would be $4503.00

Methodology: Sequencing analysis

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 759.89

Test Requisition: Sequencing Requisition