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

IllnessPrader-Willi syndrome / Angelman syndrome


Short information

Curated methylation analysis demonstrating an abnormal parent-specific imprinting pattern within the Prader-Willi critical region on chromosome 15 upon supected Prader-Willi or Angelman syndrome

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

Gene panel

Selected genes

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

Informations about the disease

Clinical Comment

Hypothalamic-pituitary dysfunction with severe hypotonia, feeding deficits during neonatal period, then excessive weight gain with hyperphagia, risk of severe obesity in child-/adulthood, learning difficulties, deficits of social skills, behavioral or severe psychiatric problems

Diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, small hands + feet

~70% PWS patients have deletion 15q11.2-q13

1% PWS patients chromosomal rearrangement with deletion in 15q11.2-q13

<1% PWS patients chromosomal rearrangements breaking in 15q11.2-q13


  • Alias: Happy puppet syndrome (UBE3A)
  • Alias: Prader-Labhart-Willi syndrome
  • Alias: Willi-Prader syndrome
  • Angelman syndrome (UBE3A)
  • Prader-Willi syndrome ([SNURF-]SNRPN)
Heredity, heredity patterns etc.
  • AD
ICD10 Code

Bioinformatics and clinical interpretation

No text defined