Confirm a diagnosis of an NSD in a pregnancy with clinically suggestive findings, such as increased nuchal translucency, cystic hygroma, and cardiac defects.
- Patient Preparation
- 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
- Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
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||31208-2|
|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