Deutsch
IllnessChristianson syndrome, differential diagnosis
Summary
Short information
2 single gene sequence analyses according to the clinical suspicion Christianson syndrome
ID
CP0415
Number of genes
2
Accredited laboratory test
Examined sequence length
2,1 kb (Core-/Core-canditate-Genes)
4,6 kb (Extended panel: incl. additional genes)
4,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Synonyms
- DD: see OMIM phenotypic series – intellectual disability -> many genes; >1300 in panelapp
- Alias: Angelman-like syndrome, XL (SLC9A6)
- Alias: Mental retardation, microcephaly, epilepsy + ataxia syndrome (SLC9A6)
- Angelman syndrome (UBE3A)
- Mental retardation, XL syndromic, Christianson type (SLC9A6)
Heredity, heredity patterns etc.
- AD
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined