2010769
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Noonan Spectrum Disorders Panel, Sequencing, Fetal

NOONAN FE
Example Reports
Negative
Positive

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Noonan Spectrum Disorders Testing Patient History Form

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Informed Consent for Genetic Testing (Required for NY patients)

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Additional Technical Information

Ordering Recommendation

Use to confirm the diagnosis of a Noonan spectrum disorder (NSD) in a pregnancy with clinically suggestive findings, such as increased nuchal translucency, cystic hygroma, and cardiac defects.

New York DOH Approval Status

This test is not New York state approved. There are no New York state-approved laboratories available. Submit a Non-Permitted Laboratory Request Form (NPL) to the NYDOH prior to collection of specimen. If NPL is approved by NYDOH, and sample is received at ARUP, testing will be performed.

Specimen Required

Patient Preparation
Collect

Fetal Specimen: Two T-25 flasks at 90 percent confluent of cultured amniocytes or cultured CVS.
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 T-25 flasks at 90 percent confluent of cultured cells filled with culture media. Backup cultures must be retained at the client's institution until testing is complete. If ARUP receives a sample below the minimum confluence, CG GRW&SND (0040182) will be added on by ARUP, and additional charges will apply. If clients are unable to culture specimens, CG GRW&SND should be added to initial order.
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

Cultured Amniocytes or Cultured CVS: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

14-21 days
If culture is required, an additional 1 to 2 weeks is required for processing time.

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

Reported times are based on receiving the two T-25 flasks at 90 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

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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

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