Noonan Spectrum Disorders, or RASopathies, are genetically heterogeneous developmental syndromes caused by germline mutations in genes involved in the Ras/MAPK signaling pathway. This pathway is essential in the regulation of cell cycle, differentiation, and growth. The prevalence of Noonan Spectrum Disorder is between 1 in 1,000 and 1 in 2,500 live births. Performing genetic testing can be clinically useful post-natally for individuals that display characteristic features (cardiac abnormalities, developmental delay/intellectual disability, etc.), or prenatally for fetuses that present with certain ultrasound findings (cystic hygroma, increased nuchal translucency,etc.) after a normal chromosome analysis. The 14 genes targeted in this Next Generation Sequencing panel are:
Testing can be ordered for just one or any combination of these 14 genes. Additionally, point mutation analysis can be performed if a previous familial mutation has already been identified. Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.
1. Lee KA et al. PTPN11 Analysis for the Prenatal Diagnosis of Noonan Syndrome in Fetuses with Abnormal Ultrasound Findings. Clin. Genet. 75:190-194.
2. Croonen EA, et al. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. Eur J Hm Genet. Sept;21(9):936-42.
Post-natal: Two 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top) from the patient and both of his/her parents are required.
- Chorionic Villi: 4 mg in conical tube with sterile saline OR transport media
- Amniotic Fluid: 15 ml in conical tube
- Cultured Cells: two confluent T-25 flasks
Additionally, please send:
- 5-10 ml maternal blood in EDTA (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
- 5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary
Shipping: Ship at room temperature.
Post-natal: 6-8 weeks
Prenatal: 3-4 weeks
Post-natal: 81404, 81405, 81406, 81408
Prenatal: 81404, 81405, 81406, 81408, 81265
Consent Form: Comprehensive General Genetics Consent [PDF]
Requisition Form: Carrier Screening Requisition [PDF]
Additional Information: Noonan Spectrum Disorders Sequencing Panel [PDF]