Ordering Recommendation

Confirm a suspected clinical diagnosis of Noonan syndrome, cardiofacial cutaneous syndrome, costello syndrome, legius syndrome, Noonan syndrome with multiple lentigines (LEOPARD syndrome), Noonan-like syndrome, and Noonan-like syndrome with loose anagen hair (NS/LAH).

New York DOH Approval Status

This test is not New York state approved. There are no New York state-approved laboratories available. The performing laboratory will submit an NYSDOH Single Use Permit (SUP) upon receipt of order. If SUP is approved by NYSDOH, testing will be performed.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or yellow (ACD solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-15 days

Reference Interval

Refer to report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

GENES TESTED: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, SPRED1

When testing cord blood specimens, the presence of maternal cell contamination (MCC) is possible, which may impact result interpretation. If clinically warranted, testing for MCC is available, at a charge, through ARUP Laboratories.

Hotline History

N/A

CPT Codes

81442

Components

Component Test Code* Component Chart Name LOINC
2010773 Noonan Disorders Sequencing Specimen
2010774 Noonan Disorders Sequencing Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Cardiofaciocutaneous syndrome
  • CFCS
  • Costello syndrome
  • CS
  • LEOPARD syndrome
  • MAPK
  • Multiple lentigines syndrome
  • Noonan-like syndrome with loose anagen hair
  • NS/LAH
  • RAS
  • Rasopathies
  • Rasopathy
Noonan Spectrum Disorders Panel, Sequencing