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IllnessWarsaw-Breakage syndrome, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Warsaw-Breakage syndrome comprising 1 core gene, 3 core candidate genes and altogether 22 curated genes according to the clinical signs

ID
WP6633
Number of genes
20 Accredited laboratory test
Examined sequence length
14,1 kb (Core-/Core-canditate-Genes)
67,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ESCO21806NM_001017420.3AR
NBN2265NM_002485.5AR
PCNT10011NM_006031.6AR
BRCA210257NM_000059.4AR
BRIP13750NM_032043.3AR
ERCC42751NM_005236.3AR
FANCA4368NM_000135.4AR
FANCB2580NM_001018113.3XL
FANCC1677NM_000136.3AR
FANCE1611NM_021922.3AR
FANCF1125NM_022725.4AR
FANCG1869NM_004629.2AR
FANCI3987NM_001113378.2AR
FANCL1128NM_018062.4AR
FANCM6147NM_020937.4AR
PALB23561NM_024675.4AR
RAD511023NM_001164269.2AD
RAD51C1131NM_058216.3AR
SLX45505NM_032444.4AR
UBE2T594NM_014176.4AR

Informations about the disease

Synonyms
  • Alias: Warsaw syndrome
  • Allelic: Aplastic anemia (NBN)
  • Allelic: Juberg-Hayward syndrome (ESCO2)
  • Allelic: Leukemia, acute lymphoblastic (NBN)
  • Allelic: Mirror movements 2 (RAD51)
  • Allelic: Wilms tumor (BRC2)
  • Allelic: XFE progeroid syndrome (ERCC4)
  • Allelic: Xeroderma pigmentosum, group F (ERCC4)
  • Allelic: Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
  • Fanconi anemia, complementation group A (FANCA)
  • Fanconi anemia, complementation group B (FANCB)
  • Fanconi anemia, complementation group C (FANCC)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group D2 (FANCD2)
  • Fanconi anemia, complementation group E (FANCE)
  • Fanconi anemia, complementation group F (FANCF)
  • Fanconi anemia, complementation group G (FANCG)
  • Fanconi anemia, complementation group I (FANCI)
  • Fanconi anemia, complementation group J (BRIP1)
  • Fanconi anemia, complementation group L (FANCL)
  • Fanconi anemia, complementation group N (PALB2)
  • Fanconi anemia, complementation group O (RAD51C)
  • Fanconi anemia, complementation group P (SLX4)
  • Fanconi anemia, complementation group Q (ERCC4)
  • Fanconi anemia, complementation group R (RAD51)
  • Fanconi anemia, complementation group T (UBE2T)
  • Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
  • Nijmegen breakage syndrome (NBN)
  • Roberts-SC phocomelia syndrome (ESCO2)
  • Warsaw breakage syndrome (DDX11)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined