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GTR Home > Tests > Tuberous Sclerosis Complex NGS panel


Test order codeHelp: TSCP-NG

Test name


Tuberous Sclerosis Complex NGS panel (TSCP-NG)

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Risk Assessment



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How to order


Additional information regarding the specific details needed for test submission can be found on our website
Order URL Help: https://www.uab.edu/medicine/genetics/medical-genomics-laboratory/testing-services/tuberous-sclerosis

Specimen source

Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood


Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Clinical utility


Establish or confirm diagnosis

Clinical validity


Not provided

Testing strategy


The Tuberous Sclerosis Complex panel by NGS involves the simultaneous sequencing of 2 genes: TSC1 and TSC2. The average coverage is >2000x with >99% of the coding region covered at ≥350x and >99.4% ≥200x. The minimum coverage for any additional areas is >30x. This allows for detection of very low level mosiacism by sequencing (as low as 8% of the alleles in all regions analyzed by NGS; >99% of the coding region does provide deeper coverage with the ability to identify substitution variants as low as 3% of the alleles). Variant and copy number calls are made using a unique bioinformatics pipeline detecting all types of variants including single nucleotide substitutions, indels and frameshifts caused by deletion or duplication up to 112bp. Deletion/duplication analysis for TSC1 and TSC2 is included in this test, as such variants are a part of the variant spectrum for these conditions. Validation of the full panel included, besides substitutions (missense, nonsense, splice variants), the most challenging variants such as insertions/deletions/duplications of 1-112bp and one-to-multiple exon deletions/duplications. The analytical sensitivity of our NGS testing approach was 100% for substitutions as well as insertion/deletions up to 112bp. This panel has not yet been validated to identify deletions/duplications >112bp and <1 exon, but such variants have not yet been found in the UAB cohort, and therefore are likely very rare. The panel has been validated for the detection of germline (heterozygous) single-exon deletions/duplications as well as multi-exon deletions/duplications, however mosaic single-exon deletion/duplications validation is still pending. Relevant family members of a proband with any (novel or previously identified) variant of unknown significance are offered free of charge targeted analysis as long as accurate phenotypic data are provided by a health care professional to enhance the interpretation. There is no limitation to the number of relatives that can be tested free of charge. Analysis can be performed on fresh or frozen affected tissue via next-generation sequencing. 000 Additional information regarding the specific details needed for test submission can be found on our website

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Result interpretation

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