Prenatal Noonan Spectrum Disorders Panel

NY Approved

Test Overview

Clinical Utility

  • Prenatal ultrasound findings suggestive of Noonan syndrome, including cystic hygroma
  • Fetus with ultrasound anomalies & parent with clinical diagnosis of Noonan syndrome

Test Details

Genes

BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1

Conditions

  • Cardio-Facio-Cutaneous Syndrome
  • Costello Syndrome
  • Noonan Syndrome

Lab Method

  • Next-Gen Sequencing

Ordering Information

Test Code: 357
CPT Codes*: 81404x1, 81405x2, 81406x2
ABN Required: No
Turnaround Time**: 2-3 weeks
Preferred Specimen: 30 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 30 mg CVS | 5 µg DNA Concentration | POC or other fetal tissue
Minimum Specimen:

20 mL Amniotic Fluid | 20 mg CVS  

Samples below the minimum amounts may be accepted, please contact [email protected] in advance to review.  

*The CPT codes provided 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 payer being billed.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control. Note that if the submitted specimen requires cell culturing, this will delay the start of testing.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs