Testing for a fetus with suspected cardiac rhabdomyoma on ultrasound or fetus at risk for tuberous sclerosis complex based on a family history.
Massively Parallel Sequencing
If culture is required, add 1-2 weeks.
New York DOH Approval Status
Fetal Specimen: Two T-25 flasks at 90% confluent of cultured amniocytes or cultured chorionic villus sampling (CVS).
AND Maternal Whole Blood Specimen: Lavender (EDTA), pink (KEDTA), or yellow (ACD Solution A or B).
Cultured Amniocytes or Cultured CVS: Fill flasks with culture media. Transport two T-25 flasks at 90 percent confluent of cultured amniocytes or cultured CVS 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.
Maternal Whole Blood Specimen: Transport 3 mL whole blood (Min: 1 mL)
Cultured Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to viability of cells.
Maternal Specimen: Room temperature.
Cultured Amniocytes or Cultured CVS: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Cell Contamination Specimen: Room temperature: 7 days; Refrigerated: 1 month; Frozen: Unacceptable
Refer to report.
Laboratory Developed Test (LDT)
Genes tested: TSC1, TSC2
Reported times are based on receiving the two T-25 flasks at 90 percent confluent. Cell culture time is independent of testing turn-around time. Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination.
81405; 81406; 81407; 81265
|Component Test Code*||Component Chart Name||LOINC|
|0050548||Maternal Contamination Study Fetal Spec||59266-7|
|0050612||Maternal Contam Study, Maternal Spec||66746-9|
|3002098||Tuberous Sclerosis Fetal Interp||50398-7|
|3002099||Tuberous Sclerosis Fetal Specimen||31208-2|
- Bourneville disease
- Bourneville phakomatosis
- cerebral sclerosis
- fetal cardiac rhabdomyoma
- sclerosis tuberosa
- tuberose sclerosis