Noonan and Comprehensive RASopathies Panel
New York
Approved
Genes
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
Alternative Specimen
*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.
Test Documents
Billing
Targeted Variant Testing