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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
2 Accredited laboratory test
Examined sequence length
1,8 kb (Core-/Core-canditate-Genes)
3,0 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-GReferenz-Seq.Heredity
ECM11704NM_001202858.2AR
FECH1272NM_000140.5AR

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

Bioinformatics and clinical interpretation

No text defined