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 loci
| Locus type | Count |
|---|---|
| Gen | 2 |
Examined sequence length
1,8 kb (Core-/Core-canditate-Genes)
3,0 kb (Extended panel: incl. additional genes)
3,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci
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