Inpatient and Outpatient Orderable

Noonan Spectrum Disorders Panel Build info

Synonyms

  • NOONAN SPECTRUM DISORDERS PNL
  • NOONAN SPECTRUM DISORDERS PNL
  • NOONAN PNL
  • LAB11639

Procedure Name

NOONAN SPECTRUM DISORDERS PNL

Procedure Master Number

LAB11639

Procedure ID

115593

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 Sources

 Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

 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

Specimen Volume

2 - 5 mL whole blood

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

Only Orderable at Locations:

 Orderable Everywhere

Results
Component Name Base Name Common Name External Name
NOONAN SPECTRUM DISORDERS PANEL NOONAN NOONAN SPECTRUM DISORDERS PANEL Noonan Spectrum Disorders Panel

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
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