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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ALAD993AR
ALAS21764XL
CPOX1365AD, AR
FECH1272AR
GATA11242XLR
HMBS1086AD
PPOX1434AD
UROD1104AR
UROS798AR
CLPX1916AD
HFE1047AD, AR, Sus
RECQL43628AR
UVSSA2130YL

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