Deutsch
IllnessPorphyria, erythropoetic 1
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion erythropoetic porphyria 1
ID
PS1002
Number of genes
1
Accredited laboratory test
Examined sequence length
1,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Sanger
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Heredity |
|---|---|---|---|
| FECH | 1272 | AR |
Informations about the disease
Clinical Comment
Erythropoietic protoporphyria as disorder of heme metabolic pathway with accumulation of protoporphyrin in blood, erythrocytes, tissues, cutaneous manifestations of photosensitivity
Synonyms
- Alias: Autosomal erythropoietic protoporphyria (FECH)
- Alias: Ferrochelatase deficiency (FECH)
- Alias: Haem-synthetase deficiency
- Alias: Protoporphyria, erythropoietic, 1; EPP (FECH)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
E80.0
Bioinformatics and clinical interpretation
No text defined