Ordering Recommendation

Testing for a fetus with suspected cardiac rhabdomyoma on ultrasound or fetus at risk for tuberous sclerosis complex based on a family history.

New York DOH Approval Status

This test is not New York state approved. ARUP cannot facilitate testing for New York state clients. Please work directly with a New York state-approved laboratory.

Specimen Required

Patient Preparation

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).

Specimen Preparation

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)

Storage/Transport Temperature

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.

Unacceptable Conditions

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


Massively Parallel Sequencing




14-21 days
If culture is required, add 1-2 weeks.

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

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.

Hotline History


CPT Codes

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
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • Bourneville disease
  • Bourneville phakomatosis
  • cerebral sclerosis
  • epiloia
  • fetal cardiac rhabdomyoma
  • sclerosis tuberosa
  • TSC
  • TSC1
  • TSC2
  • tuberose sclerosis
Tuberous Sclerosis Complex Panel, Sequencing and Deletion/Duplication, Fetal