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Tuberous Sclerosis Complex via the TSC2 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
TSC2 81407 81407,81406 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3039TSC281407 81407,81406 $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 (TSC1, OMIM 191100; TSC2, OMIM 613254) affects multiple organ systems including the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, fibrous facial plaques, ungual fibromas); brain (e.g. 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 nearly 1 in 5800 children in the United States (Osborne et al. Ann N Y Acad Sci. 615:125, 1991).


Tuberous sclerosis complex (TSC) is mainly caused by variants in the TSC1 and TSC2 genes, which are tumor suppressors that are involved in cellular proliferation and act thorough multiple signaling pathways (e.g. mTOR/AKT pathways) (Orlova et al. Ann N Y Acad Sci 1184:87, 2010). TSC is inherited in an autosomal dominant manner with two-thirds of cases resulting from sporadic germline variants and one-third of cases inherited from an affected parent. It presents with complete penetrance but with variable expressivity. Phenotypes of TSC types can be similar, but TSC2 variants are reported to cause a more severe clinical presentation (Northrup et al. 2020. PubMed ID: 20301399). Truncating variants are found in the majority of TSC cases, and variants reported to date include missense, splice site, small insertions and deletions, and large deletions (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

Variants can be identified in approximately 95% of individuals with tuberous sclerosis; 5% of individuals with TSC will not have a variant identified. Variants identified in TSC2 are found in 69% of patients (Northrup et al. 2020. PubMed ID: 20301399). Deletions and duplications are found in up to 2% of TSC2 variants (Northrup et al. 2020. PubMed ID: 20301399). TSC shows a high degree of somatic mosaicism, and sequence change levels that are less than 10% may be difficult to detect via sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the TSC2 gene, plus ~10 bases of flanking noncoding DNA. We define full 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. Earlier detection of clinical abnormalities can lead to earlier treatment and better outcomes. This test is specifically designed for heritable germline variants and is not appropriate for the detection of somatic variants in tumor tissue.


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


Name Inheritance OMIM ID
Tuberous Sclerosis 2 AD 613254

Related Tests

Interstitial Lung Disease Panel
Renal Cancer Panel
Tuberous Sclerosis Complex (TSC) Deletion/Duplication Testing via MLPA
Tuberous Sclerosis Complex (TSC) Panel
Tuberous Sclerosis Complex via the TSC1 Gene


  • Northrup et al. 2020. PubMed ID: 20301399
  • Orlova KA, Crino PB. 2010. The tuberous sclerosis complex. Annals of the New York Academy of Sciences 1184: 87-105. PubMed ID: 20146692
  • Osbourne et al. Ann N Y Acad Sci. 1991;615:125-7 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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