Confirm a diagnosis of an NSD in a pregnancy with clinically suggestive findings, such as increased nuchal translucency, cystic hygroma, and cardiac defects.
Massively Parallel Sequencing
3 weeks; if culture is required, an additional 1 to 2 weeks is required for processing time.
New York DOH Approval Status
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).
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)
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.
Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
Laboratory Developed Test (LDT)
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
|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|
- Cardiofaciocutaneous syndrome
- Costello syndrome
- LEOPARD syndrome
- Multiple lentigines syndrome
- Noonan- like syndrome with loose anagen hair