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

IllnessCockayne syndrome

Request form illness

Summary

Short information

Comprehensive differential diagnostic panel for Cockayne syndrome comprising 2 guideline-curated and altogether 8 curated genes according to the clinical signs

ID
CP0330
Number of genes
8 Accredited laboratory test
Examined sequence length
18,9 kb (Core-/Core-canditate-Genes)
- (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
DDB21284NM_000107.3AR
ERCC1972NM_202001.3AR
ERCC22283NM_000400.4AR
ERCC32349NM_000122.2AR
ERCC42751NM_005236.3AR
ERCC53561NM_000123.4AR
ERCC64482NM_000124.4AR
ERCC81191NM_000082.4AR

Informations about the disease

Clinical Comment

Multisystem condition with short stature, characteristic face, premature aging, photosensitivity, progressive neurological dysfunction, intellectual deficit

 

Synonyms
  • Cockayne syndrome spectrum
  • Sy: Cachectic dwarfism, cutaneous photosensitivity, thin, dry hair, progeroid appearance
  • Allelic: Cerebrooculofacioskeletal syndrome 1 (ERCC6)
  • Allelic: Cerebrooculofacioskeletal syndrome 2 (ERCC2)
  • Allelic: Cerebrooculofacioskeletal syndrome 3 (ERCC5)
  • Allelic: Cerebrooculofacioskeletal syndrome 4 (ERCC1)
  • Allelic: De Sanctis-Cacchione syndrome (ERCC6)
  • Allelic: Fanconi anemia, complementation group Q (ERCC4)
  • Allelic: Lung cancer, susceptibility to (ERCC6)
  • Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
  • Allelic: Premature ovarian failure 11 (ERCC6)
  • Cockayne syndrome, type A (ERCC8)
  • Cockayne syndrome, type B (ERCC6)
  • Trichothiodystrophy 1, photosensitive (ERCC2)
  • Trichothiodystrophy 2, photosensitive (ERCC3)
  • UV-sensitive syndrome 1 (ERCC6)
  • UV-sensitive syndrome 2 (ERCC8)
  • Xeroderma pigmentosum, group B (ERCC3)
  • Xeroderma pigmentosum, group D (ERCC2)
  • Xeroderma pigmentosum, group E, DDB-negative subtype (DDB2)
  • Xeroderma pigmentosum, group F (ERCC4)
  • Xeroderma pigmentosum, group G (ERCC5)
  • Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
  • Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined