IllnessCockayne syndrome
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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
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
Q87.1
Bioinformatics and clinical interpretation
No text defined