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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessTuberous sclerosis, differential diagnosis


Short information

The panel comprises the two guideline-curated single gene sequence analyses as well as a curated gene relevant in the differential diagnosis according to the clinical suspicion Tuberous sclerosis

Number of genes
2 Accredited laboratory test
Examined sequence length
9,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

Tuberous sclerosis is a multi-system disease with conspicuous skin involvement already in early childhood. Besides facial angiofibromas, hypomelanotic maculae, fibrous forehead plaques, there are also ungual fibromas. Common non-dermatological manifestations affect the central nervous system, heart, kidneys, lungs, abdominal organs, retina and bones. The main characteristics of the disease are benign hamartomas, which develop in the organs and differ in number and size. The tuberous sclerosis complex is inherited autosomal dominantly, the penetrance and expressivity are highly variable and range from mild dermatological symptoms with normal life expectancy to persistent epilepsy and severe intellectual deficit. The diagnostic yield when examining the TSC1 and TSC2 genes is 75-90%. An inconspicuous genetic finding does not therefore mean that the suspected clinical diagnosis can be excluded with certainty.

(Basic diagnostic genes: TSC1, TSC2)

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1220/


  • Alias: Bourneville syndrome
  • Alias: TSC
  • Alias: Tuberous sclerosis complex, TSC
  • Alias: Tuberöse Sklerose Komplex
  • Allelic: Focal cortical dysplasia, type II, somatic (TSC1, TSC2)
  • Allelic: Lymphangioleiomyomatosis (TSC1, TSC2)
  • Brooke-Spiegler syndrome (CYLD)
  • Cylindromatosis, familial (CYLD)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (CYLD)
  • Trichoepithelioma, multiple familial, 1 (CYLD)
  • Tuberous sclerosis complex (TSC1)
  • Tuberous sclerosis-1 (TSC1)
Heredity, heredity patterns etc.
  • AD
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined