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Tuberous Sclerosis Complex (TSC) Panel

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
TSC1 81406,81405
TSC2 81407,81406
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10661Genes x (2)81479 81405(x1), 81406(x2), 81407(x1) $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

Tuberous Sclerosis Complex affects multiple organ systems including the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, fibrous facial plaques, ungual fibromas), brain (cortical tubers, astrocytomas, seizures, intellectual disability/developmental delay), kidney (cysts, renal cell carcinomas), heart (rhabdomyomas, arrhythmias), and lungs (lymphangioleiomyomatosis [LAM]) (Northrup et al. 2020. PubMed ID: 20301399). It affects about 1 in 5,800 children in the United States (Osborne et al. 1991. PubMed ID: 2039137). Nearly 100% of individuals with TSC have skin or dental findings detectable via physical examination. Individuals who meet specific clinical findings (major and minor features) and/or have a pathogenic variant in one of the TSC genes have a definite diagnosis of Tuberous Sclerosis (Northrup and Krueger. 2013. PubMed ID: 24053982). For brain abnormalities, such as subependymal giant cell astrocytomas, either surgical resection or mTOR inhibitors can be utilized depending on the presence of singular or multiple lesions. Surveillance of brain, kidney, lung, teeth and other pertinent organs for disease progression have previously been recommended at specific intervals (1-3 years) to include periodic magnetic resonance imaging (MRI), computed tomography (CT), echocardiogram, electroencephalograph (EEG), dermatologic and eye exams (Krueger and Northrup. 2013. PubMed ID: 24053983).


Tuberous Sclerosis Complex (TSC) is caused by pathogenic variants in the TSC1 and TSC2 genes. These genes are tumor suppressors that are involved in cellular proliferation and act through multiple signaling pathways (mTOR/AKT pathways) (Orlova and Crino. 2010. PubMed ID: 20146692). TSC is inherited in an autosomal dominant manner with two-thirds of cases resulting from de novo mutation events and one-third of cases inherited from an affected parent. It presents with near complete penetrance, but has variable expressivity. Phenotypes of TSC types can be similar, but TSC2 pathogenic variants are reported to cause a more severe clinical presentation (Northrup et al. 2020. PubMed ID: 20301399). Causative variants reported to date include nonsense, missense, splice site, small insertions and deletions, and large duplications and deletions (Human Gene Mutation Database). Truncating variants are found in the majority of TSC cases.

Clinical Sensitivity - Sequencing with CNV PG-Select

Pathogenic variants can be identified in approximately 95% of individuals with tuberous sclerosis (TSC). Individuals with a TSC pathogenic variant will have a germline TSC2 or TSC1 variant in about 69% and 26% of cases, respectively. Approximately 5% of cases will be due to a somatic mutation event. Individuals with an identifiable TSC pathogenic variant will have either a large deletion or duplication in up to 2% and 0.5% of cases in TSC2 and TSC1, respectively (Northrup et al. 2020. PubMed ID: 20301399).

Testing Strategy

This panel provides 100% coverage of all coding exons of the genes listed, plus ~10 bases of flanking noncoding DNA. We define coverage as ≥20X NGS reads or Sanger sequencing.

Indications for Test

Individuals with a clinical presentation of tuberous sclerosis or having a family history of tuberous sclerosis. Early diagnosis can lead to better outcomes. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.


Official Gene Symbol OMIM ID
TSC1 605284
TSC2 191092
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Tuberous Sclerosis 1 AD 191100
Tuberous Sclerosis 2 AD 613254

Related Test



  • Human Gene Mutation Database (Bio-base).
  • Krueger and Northrup. 2013. PubMed ID: 24053983
  • Northrup and Krueger. 2013. PubMed ID: 24053982
  • Northrup et al. 2020. PubMed ID: 20301399
  • Orlova and Crino. 2010. PubMed ID: 20146692
  • Osborne et al. 1991. PubMed ID: 2039137


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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