Diagnostic testing for individuals with a clinical diagnosis or suspicion of tuberous sclerosis complex. Presymptomatic testing for individuals at risk for tuberous sclerosis complex based on a family history.
Massively Parallel Sequencing
New York DOH Approval Status
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 3 mL)
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
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)
Genes tested: TSC1, TSC2
81405, 81406, 81407
|Component Test Code*||Component Chart Name||LOINC|
|3002101||Tuberous Sclerosis Interp||50398-7|
|3002102||Tuberous Sclerosis Specimen||31208-2|
- Bourneville disease
- Bourneville phakomatosis
- cerebral sclerosis
- sclerosis tuberosa
- tuberose sclerosis