Ordering Recommendation

Confirm a diagnosis of an NSD in a pregnancy with clinically suggestive findings, such as increased nuchal translucency, cystic hygroma, and cardiac defects.

Mnemonic
NOONAN FE
Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

2-4 weeks, if culture is required an additional 1 to 2 weeks is required for processing time.

New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect

Fetal Specimen: Four T-25 flasks at 80 percent confluent of cultured amniocytes or cultured CVS. If the client is unable to culture, this can be arranged by contacting ARUP Client Services at (800) 522-2787. 
AND Maternal Cell Contamination Specimen: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Cultured Amniocytes or Cultured CVS: Fill flasks with culture media. Transport four T-25 flasks at 80 percent confluent of cultured cells filled with culture media. Backup cultures must be retained at the client's institution until testing is complete.
AND Maternal Cell Contamination Specimen: Transport 3 mL whole blood (Min: 1 mL)

Storage/Transport Temperature

Culture Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to lability of cells.
Maternal Cell Contamination Specimen:
Ambient.

Unacceptable Conditions
Remarks
Stability

Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal:
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report. 

Compliance Category

Laboratory Developed Test (LDT)

Note

Reported times are based on receiving the four T-25 flasks at 80 percent confluency. Cell culture time is independent of testing turn-around time. Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination.

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

Hotline History
N/A
CPT Codes

81442; 81265 Fetal Cell Contamination (FCC)

Components
Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 31208-2
2010770 Noonan Disorders Seq. Specimen, Fetal
2010771 Noonan Disorders Seq. Interp, Fetal
* 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, Fetal