IllnessPorphyria, erythropoetic 1

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion erythropoetic porphyria 1

PS1002

Number of genes

1 Accredited laboratory test

Examined sequence length

1,3 kb (Core-/Core-canditate-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	Referenz-Seq.	Heredity
FECH	1272	612386	NM_000140.5	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.

OMIM-Ps

612386

ICD10 Code

Bioinformatics and clinical interpretation

No text defined