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

IllnessTumor predisposition syndrome, BAP1-dependent

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Summary

Short information

Guideline-curated single gene sequence analysis according to the clinical suspicion Tumor predisposition syndrome, BAP1-dependent

ID
TS1001
Number of genes
1 Accredited laboratory test
Examined sequence length
2,2 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

Sanger

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
BAP12190NM_004656.4AD

Informations about the disease

Clinical Comment

Most commonly observed cancers: uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer + meningioma; common cutaneous manifestations include malignant melanoma, basal cell carcinoma + benign melanocytic BAP1-mutated atypical intradermal tumors

 

Synonyms
  • Alias: BAP1-related tumor predisposition syndrome (BAP1)
  • Alias: Tumor susceptibility linked to germline BAP1 mutations
  • FAMMM; Nierenkarzinom (BAP1)
  • Familial Atypical Mole-Malignant Melanoma syndrome, FAMMM (BAP1)
  • Tumor predisposition syndrome (BAP1)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined