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

IllnessPleuropulmonary blastoma

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion pleuropulmonary Blastoma

ID
PS1342
Number of genes
1 Accredited laboratory test
Examined sequence length
5,8 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
DICER15769NM_177438.3AD, Sus

Informations about the disease

Clinical Comment

DICER1-related familial tumor susceptibility syndrome with increased risk PPB; ovarian sex cord-stromal tumors (Sertoli-Leydig cell tumor, juvenile granulosa cell tumor, gynandroblastoma); cystic nephroma; thyroid gland neoplasia (multinodular goiter, adenomas, differentiated thyroid cancer)

 

Synonyms
  • Alias: DICER1 syndrome
  • Alias: DICER1-Pleuropulmonary blastoma familial tumor predisposition syndrome
  • Alias: PPB familial tumor and dysplasia syndrome
  • Alias: Pleuro-pulmonary blastoma familial tumor susceptibility syndrome
  • Alias: Pleuropulmonary blastoma; PPB
  • Allelic: GLOW syndrome, somatic mosaic (DICER1)A
  • Allelic: Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
  • Allelic: Rhabdomyosarcoma, embryonal, 2 (DICER1)
  • Pleuropulmonary blastoma (DICER1)
Heredity, heredity patterns etc.
  • AD
  • Sus
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined