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Geneticpanel diagnostics

IllnessLipoidproteinosis, differential diagnosis

Summary

Short information

Umfassendes differentialdiagnostisches panel für Lipoidproteinose mit 3 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
LP5212
Number of genes
3 Akkreditierte Untersuchung
Examined sequence length
1,8 kb (Core-/Base-Genes)
7,5 kb (Extended panel)
Analysis Duration
auf Anfrage
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ECM11704AR
ABCC64512AD und/oder AR und/oder Dig und/oder Mult
FECH1272AR

Informations about the disease

Synonyms
  • Alias: Hyalinosis cutis et mucosae
  • Alias: Lipoid proteinosis
  • Alias: Urbach-Wiethe-Krankheit
  • 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.
  • AD und/oder AR und/oder Dig und/oder Mult
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatics and clinical interpretation

No text defined