Noonan Spectrum Disorders Panel, Sequencing, Fetal

2010769
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Example Reports
Negative
Positive

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Test not New York DOH approved at any laboratory. An approved NPL form must accompany specimen.

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Noonan Spectrum Disorders Testing Patient History Form

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Additional Technical Information

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

3 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: Two (2) T-25 flasks at 80% 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 two (2) 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. 

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

Note

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

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
11/14/2022
X
X
02/22/2022
X
N/A

CPT Codes

81442; 81265

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Components

Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 66746-9
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