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IllnessPorphyria, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Porphyria containing 4 core genes, 5 core candidate genes and 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
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| ALAD | 993 | NM_000031.6 | AR | |
| ALAS2 | 1764 | NM_000032.5 | XL | |
| CPOX | 1365 | NM_000097.7 | AD, AR | |
| FECH | 1272 | NM_000140.5 | AR | |
| GATA1 | 1242 | NM_002049.4 | XLR | |
| HMBS | 1086 | NM_000190.4 | AD | |
| PPOX | 1434 | NM_000309.5 | AD, AR | |
| UROD | 1104 | NM_000374.5 | AD, AR | |
| UROS | 798 | NM_000375.3 | AR | |
| CLPX | 1916 | NM_006660.5 | AD | |
| HFE | 1047 | NM_000410.4 | AD, AR, Sus | |
| RECQL4 | 3628 | NM_004260.4 | AR | |
| UVSSA | 2130 | NM_020894.4 | AR |
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
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined