IllnessPorphyria, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Porphyria comprising 9 or altogether 14 curated genes according to the clinical signs
ID
PP0900
Number of genes
13
Accredited laboratory test
Examined sequence length
11,1 kb (Core-/Core-canditate-Genes)
19,8 kb (Extended panel: incl. additional genes)
19,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Informations about the disease
Clinical Comment
8 hereditary metabolic diseases: intermittent neuro-visceral manifestations, cutaneous lesions or combination of both
Synonyms
- Alias: Inherited defects in the biosynthesis of heme
- Allelic: Alzheimer disease, susceptibility to (HFE)
- Allelic: Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
- Allelic: Anemia, sideroblastic, 1 (ALAS2)
- Allelic: Hemochromatosis (HFE)
- Allelic: Lead poisoning, susceptibility to (ALAD)
- Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
- Allelic: Microvascular complications of diabetes 7 (HFE)
- Allelic: Thrombocytopenia with beta-thalassemia, XL (GATA1)
- Allelic: Transferrin serum level QTL2 (HFE)
- Coproporphyria (CPOX)
- Ferrochelatase deficiency; Haem-synthetase deficiency (FECH)
- Harderoporphyria (CPOX)
- Porphyria cutanea tarda (UROD)
- Porphyria cutanea tarda, susceptibility to (HFE)
- Porphyria variegata (PPOX)
- Porphyria variegata, susceptibility to (HFE)
- Porphyria, acute hepatic (ALAD)
- Porphyria, acute intermittent (HMBS)
- Porphyria, acute intermittent, nonerythroid variant (HMBS)
- Porphyria, congenital erythropoietic (UROS)
- Porphyria, hepatoerythropoietic (UROD)
- Protoporphyria, erythropoietic, 1 (FECH)
- Protoporphyria, erythropoietic, 2 (CLPX)
- Protoporphyria, erythropoietic, XL (ALAS2)
- Rothmund-Thomson syndrome, type 1 (ANAPC1)
- Rothmund-Thomson syndrome, type 2 (RECQLA4)
- Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
Heredity, heredity patterns etc.
- AD
- AR
- Sus
- XL
- XLR
- YL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E80.2
Bioinformatics and clinical interpretation
No text defined