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

IllnessPhotosensitivity, cutaneous; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Photosensitivity, cutaneous, containing 13 core candodate genes and altogether 14 curated genes according to the clinical signs

ID
PP9911
Number of genes
14 Accredited laboratory test
Examined sequence length
27,3 kb (Core-/Core-canditate-Genes)
28,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ALAD993NM_000031.6AR
ALAS21764NM_000032.5XL
ANAPC15835NM_022662.4AR
CPOX1365NM_000097.7AD, AR
ERCC64482NM_000124.4AR
ERCC81191NM_000082.4AR
FECH1272NM_000140.5AR
GATA11242NM_002049.4XLR
PPOX1434NM_000309.5AD, AR
RECQL43628NM_004260.4AR
UROD1104NM_000374.5AD
UROS798NM_000375.3AR
UVSSA2130NM_020894.4AR
HMBS1086NM_000190.4AD

Informations about the disease

Clinical Comment

rare

 

Synonyms
  • Alais: Genetic skin photosensitivity
  • Alias: Photodermatose
  • Alias: Photogenodermatose
  • Alias: Photosensitivität der Haut, genetisch bedingte
  • Alias: UV-sensitive syndrome
  • Allelic: Anemia, sideroblastic, 1 (ALAS2)
  • Allelic: Baller-Gerold syndrome (RECQL4)
  • Allelic: Cerebrooculofacioskeletal syndrome 1 (ERCC6)
  • Allelic: Lead poisoning, susceptibility to (ALAD)
  • Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
  • Allelic: Lung cancer, susceptibility to (ERCC6)
  • Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
  • Allelic: Premature ovarian failure 11 (ERCC6)
  • Allelic: RAPADILINO syndrome (RECQL4)
  • Allelic: Thrombocytopenia with beta-thalassemia, XL (GATA1)
  • Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
  • Cockayne syndrome, type A (ERCC8)
  • Cockayne syndrome, type B (ERCC6)
  • Coproporphyria (CPOX)
  • De Sanctis-Cacchione syndrome (ERCC6)
  • Harderoporphyria (CPOX)
  • Porphyria cutanea tarda (UROD)
  • Porphyria variegata (PPOX)
  • 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, XL (ALAS2)
  • Rothmund-Thomson syndrome, type 1 (ANAPC1)
  • Rothmund-Thomson syndrome, type 2 (RECQL4)
  • Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
  • UV-sensitive syndrome 1 (ERCC6)
  • UV-sensitive syndrome 2 (ERCC8)
  • UV-sensitive syndrome 3 (UVSSA)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined