Noonan Spectrum Disorders Pnl Noonan Pnl

Synonyms
Allscripts (AEHR) Order Name	Not Orderable
Sunrise Clinical Manager (SCM) Order Name	Not Orderable
EPIC Order Name	Noonan Spectrum Disorders Panel
Clinical Info	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 GeneDx Test code 357
Specimen Type	Blood, Other
Specimen Volume	2 - 5 mL whole blood
Container	Lavender Top Tube or Buccal (Oral Cheek Swab)
Collection Instructions	Container/Tube: Lavender top tube Specimen: 2 - 5 mL whole blood Alternate Specimen: Buccal Swabs/Extracted DNA
Transport Instructions	Room Temperature
Specimen Stability
Methodology	Next-Gen Sequencing Deletion/Duplication Analysis GeneDx Test Code: TA06
Days Performed	TAT: 4 Weeks
Performing Laboratory	GeneDx
CPT	81442x1
PDM	1659918
Result Interpretation See Report Includes 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
Forms

Synonyms