Ordering Recommendation

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. 

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation

Lavender or Pink (EDTA) or Yellow (ACD Solution A or B).
New York State Clients: Lavender (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Min: 3 mL)
New York State Clients: 5 mL (Min: 3 mL)

Storage/Transport Temperature


Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.


Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable


Massively Parallel Sequencing




10-15 days

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)


Genes tested: TSC1, TSC2

Hotline History


CPT Codes

81405, 81406, 81407


Component Test Code* Component Chart Name LOINC
3002101 Tuberous Sclerosis Interp 50398-7
3002102 Tuberous Sclerosis 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
  • sclerosis tuberosa
  • TSC
  • TSC1
  • TSC2
  • tuberose sclerosis
Tuberous Sclerosis Complex Panel, Sequencing and Deletion/Duplication