©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessLipoidproteinosis, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Lipoidproteinosis comprising 3 curated genes according to the clinical signs

ID
LP5212
Number of genes
3 Accredited laboratory test
Examined sequence length
1,8 kb (Core-/Core-canditate-Genes)
7,5 kb (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-GHeredity
ECM11704AR
ABCC64512AR
FECH1272AR

Informations about the disease

Synonyms
  • Alias: Hyalinosis cutis et mucosae (ECM1)
  • Alias: Lipoid proteinosis (ECM1)
  • Alias: Urbach-Wiethe-Krankheit (ECM1)
  • Arterial calcification, generalized, of infancy, 2 (ABCC6)
  • Protoporphyria, erythropoietic, 1 (FECH)
  • Pseudoxanthoma elasticum (ABCC6)
  • Pseudoxanthoma elasticum, forme fruste (ABCC6)
  • Urbach-Wiethe disease (ECM1)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatics and clinical interpretation

No text defined