Noonan and Comprehensive RASopathies Panel

Concurrent analysis of multiple genes associated with disorders caused by defects in the Ras/MAPK pathway including Noonan syndrome, Cardio-facio-cutaneous syndrome, Costello syndrome, and Leguis syndrome. 

NY Approved

Test Overview

Clinical Utility

  • Diagnosis in a patient based on clinical diagnosis
  • Diagnosis for known familial pathogenic variant(s)
  • Distinguish between causes and forms of RASopathies and disorders with phenotypically similar clinical presentations
  • Genetic counseling, especially regarding recurrence risk

Test Details

Genes

A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1

Conditions

  • Baraitser-Winter Syndrome
  • Capillary Malformation-Arteriovenous Malformation syndrome (CV-AVM)
  • Cardio-Facio-Cutaneous Syndrome
  • Costello Syndrome
  • Genitopatellar syndrome
  • Legius Syndrome
  • Noonan-Like Syndrome
  • Noonan Syndrome
  • Noonan syndrome with multiple lentigines
  • Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS)

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: TA06
CPT Codes*: 81442x1
ABN Required: No
Turnaround Time**: 4 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs | Extracted DNA

*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.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs