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

IllnessPerlman syndrome

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Perlman syndrome

ID
PS5090
Number of genes
1 Accredited laboratory test
Examined sequence length
2,7 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
DIS3L22658NM_152383.5AR

Informations about the disease

Clinical Comment

Polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with/without nephroblastomatosis), hypertrophy of Langerhans islets, facial dysmorphism

 

Synonyms
  • Alias: Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (DIS3L2)
  • Alias: Renal hamartomas, nephroblastomatosis, fetal gigantism (DIS3L2)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined