GeneDX, Comprehensive Noonan - Noonan Spectrum Disorder Panel

Message

Collect at NMCP only Mon-Thursday by 1200

Test Code

534

Alias/See Also

Noonan Syndrome

CPT Codes
81405x1, 81406x1, 84311x1

Includes

Genes: BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, MAPK2K1, NRAS, PTPN11, RAF1, SHOC2

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Instructions

Ship overnight at ambient temperature, using a cool pack in hot weather. Specimens may be refrigerated for 7 days prior to shipping.

Transport Container

Lavender Top Tube

Transport Temperature

ambient

Methodology
Next-gen Sequencing

Report Available

6-7 weeks

Clinical Significance

Individuals with Noonan syndrome (NS) have facial dysmorphology, which may include hypertelorism, downward slanting eyes, epicanthal folds, and low-set and posteriorly rotated ears. A variety of cardiac defects may be present, including pulmonary stenosis, patent ductus arteriosus, hypertrophic cardiomyopathy, and coarctation of the aorta. Other features include short stature, pterygium colli, short, webbed neck, deafness, motor delay, and bleeding diathesis. Lymphedema may be present prenatally. Noonan syndrome shares some clinical features with cardio-facio-cutaneous (CFC) and Costello syndrome. However, Noonan syndrome patients typically have milder cognitive deficits and fewer ectodermal problems

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.