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
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).
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)
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.
Culture Amniocytes or Cultured CVS: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Cell Contamination Specimen: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
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
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||31208-2|
|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