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.

Mnemonic

TSC NGS FE

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

2-3 weeks; if culture is required, an additional 1-2 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
Collect

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).

Specimen Preparation

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).

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
Remarks
Stability

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

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

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.

Hotline History

N/A

CPT Codes

81405; 81406; 81407; 81265

Components

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.

Aliases

  • 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