Noonan and Comprehensive RASopathies Panel

New York
Approved


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

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

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

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.