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

IllnessProteus syndrome

Request form illness

Summary

Short information

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

ID
PS5141
Number of genes
1 Accredited laboratory test
Examined sequence length
1,5 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
AKT11443NM_005163.2AD

Informations about the disease

Clinical Comment

Complex hamartomatous overgrowth disorder with progressive overgrowth of skeleton, skin, adipose, central nervous system

 

Synonyms
  • Alias: Gigantism, partial, of hands and feet, nevi, hemihypertrophy, macrocephaly
  • Alias: Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
  • Allelic: Breast cancer, somatic (AKT1)
  • Allelic: Colorectal cancer, somatic (AKT1)
  • Allelic: Cowden syndrome 6 (AKT1)
  • Allelic: Ovarian cancer, somatic (AKT1)
  • Proteus syndrome, somatic (AKT1)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined