Deutsch
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)
7,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
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