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
2-3 weeks; if culture is required, an additional 1-2 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 chorionic villus sampling (CVS).
AND Maternal whole blood 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% 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 the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787 ext. 2 prior to test submission.
Maternal whole blood specimen: Transport 3 mL whole blood. (Min: 2 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: Room temperature: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal whole blood specimen: Room temperature: 7 days; Refrigerated: 1 month; Frozen: Unacceptable
Refer to report.
Laboratory Developed Test (LDT)
Genes tested: TSC1 TSC2
Cell culture time is independent of testing turnaround 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