Preferred test for fetuses with HPE that is not caused by a structural or numerical chromosome abnormality.
- 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
- Cultured Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to lability of cells.
Maternal Cell Contamination Specimen: Refrigerated.
- Unacceptable Conditions
- Reported times are based on receiving the four T-25 flasks at 80 percent confluent. Cell culture time is independent of testing turn-around time. Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination. Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services
- Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Patient History forms are available online at www.aruplab.com.
|Component Test Code*||Component Chart Name||LOINC|
|0050548||Maternal Contamination Study Fetal Spec||31208-2|
|0050612||Maternal Contam Study, Maternal Spec||31208-2|
|2008864||Holoprosencephaly Panel Specimen, Fetal|
|2008867||Holoprosencephaly Panel Interp, Fetal|
- DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2