Noonan Syndrome Panel


Related Gene(s): BRAF, CBL, HRAS, KRAS, NRAS, MAP2K1, MAP2K2, PTPN11, NF1, RAF, RIT1, SHOC2, SOS1, SPRED1

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 the Noonan Spectrum Disorders is between 1 in 1,000 and 1 in 2,500 live births. Performing genetic testing can be clinically useful postnatally 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 BRAF, CBL, HRAS, KRAS, NRAS, MAP2K1, MAP2K2, PTPN11, NF1, RAF, RIT1, SHOC2, SOS1, and SPRED1.

Testing can be ordered for any combination of these 14 genes or for just one of them. Additionally, targeted mutation analysis can be performed if a previous familial mutation has already been identified.

Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.


Specimen Requirements

Prenatal

  • 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:
  • Maternal blood: 5-10 mL in EDTA tube (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
  • Paternal blood: 5-10 mL in EDTA tube (lavender top) in case paternal confirmation studies are necessary

Postnatal

  • For adults
  • Blood: Two 5-10 mL tubes with EDTA (lavender top) or two 5-10 mL tubes with ACD (yellow top) from the patient
  • Additionally, please send two 5-10 mL tubes with EDTA (lavender top) or two 5-10 mL tubes with ACD (yellow top) from both parents

  • For newborns or children
  • Blood: 2 mL in pediatric EDTA tube (lavender top) or 2 mL in pediatric ACD tube (yellow top) from patient
  • Additionally, please send two 5-10 mL tubes with EDTA (lavender top) or two 5-10 mL tubes with ACD (yellow top) from both parents

Ordering Information

Shipping

  • Ship at room temperature