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

IllnessSchwannomatosis, differential diagnosis


Short information

Comprehensive differential diagnostic panel for Schwannomatosis comprising 4 or altogether 7 curated genes according to the clinical signs

Number of genes
7 Accredited laboratory test
Examined sequence length
14,0 kb (Core-/Core-canditate-Genes)
17,8 kb (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
LZTR12523NM_006767.4AD, Sus
SMARCB11158NM_003073.5AD, Sus
SUFU1455NM_016169.4AD, AR

Informations about the disease

Clinical Comment

Schwannomatosis is characterized by multiple benign tumors, so-called Schwannomas, which develop from the Schwann cells of the nerve sheath. First symptoms usually appear in early adulthood, with chronic pain possibly anywhere in the body. Life expectancy is normal. Schwannomatosis can be considered as a form of neurofibromatosis very similar to NF2 - but without vestibular schwannomas as a typical characteristic of NF2 and without NF2 mutation in peripheral blood. However, NF2 mutation mosaics are common, resulting from somatic hereditary mutations. The heredity of schwannomatosis is not yet understood; <20% of schwannomatosis cases share a positive family history. Therefore, an inconspicuous genetic finding does not mean that the suspected clinical diagnosis can be excluded with certainty.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK487394/


  • Alias: Neurofibromatose Typ 3, NF3
  • Alias: Schwannomatose, NF3
  • Allelic: Acrodysostosis 1, with/-out hormone resistance (PRKAR1A)
  • Allelic: Adrenocortical tumor, somatic (PRKAR1A)
  • Allelic: Basal cell nevus syndrome (SUFU)
  • Allelic: Coffin-Siris syndrome 3 (SMARCB1)
  • Allelic: Coffin-Siris syndrome 5 (SMARCE1)
  • Allelic: Joubert syndrome 32 (SUFU)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Medulloblastoma, desmoplastic (SUFU)
  • Allelic: Meningioma, NF2-related, somatic (NF2)
  • Allelic: Meningioma, familial, susceptibility to (SMARCE1, SUFU)
  • Allelic: Myxoma, intracardiac (PRKAR1A)
  • Allelic: Neurofibromatosis-Noonan syndrome (NF1)
  • Allelic: Noonan syndrome 10 (LZTR1)
  • Allelic: Noonan syndrome 2 (LZTR1)
  • Allelic: Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
  • Allelic: Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
  • Allelic: Rhabdoid tumors, somatic (SMARCB1)
  • Allelic: Watson syndrome (NF1)
  • Carney complex, type 1 (PRKAR1A)
  • Neurofibromatosis, familial spinal (NF1)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis, type 2 (NF2)
  • Schwannomatosis, somatic (NF2)
  • Schwannomatosis-1, susceptibility to (SMARCB1)
  • Schwannomatosis-2, susceptibility to (LZTR1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
  • n.k.
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined