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.




Massively Parallel Sequencing/Genomic Microarray (Oligo-based Array)




2-4 weeks, if culture is required an additional 1 to 2 weeks is required for processing time

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation

Fetal Specimen: Four (4) 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 (K2EDTA), Pink (K3EDTA), or Yellow (ACD Solution A or B).

Specimen Preparation

Cultured Amniocytes or Cultured CVS: Fill flasks with culture media. Transport four (4) 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:
Room temperature.

Unacceptable Conditions

Culture Amniocytes or Cultured CVS: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Cell Contamination Specimen: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)


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.

Genes tested: TSC1 TSC2

Hotline History


CPT Codes

81228; 81405; 81406; 81407; 81265 Fetal Cell Contamination (FCC)


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