Deutsch
IllnessMicrocephaly, predominantly secondary, syndromal; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Microcephaly, predominantly secondary, syndromal, comprising 13 guideline-curated genes
ID
MP1234
Number of genes
13
Accredited laboratory test
Examined sequence length
74,0 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 +
[Sanger]
Gene panel
Informations about the disease
Clinical Comment
Simply requesting this panel does not appear sensible, instead gene candidates should be selected from the panel on the basis of clinical symptoms.
Synonyms
- Alias: Microcephaly, primarily secondary, syndromal
- Angelman syndrome (UBE3A)
- Cockayne syndrome, type A (ERCC8)
- Cohen syndrome (VPS13B)
- Cornelia de Lange syndrome 1 (NIPBL)
- Cornelia de Lange syndrome 2 (SMC1A)
- Cornelia de Lange syndrome 3 (SMC3)
- Cornelia de Lange syndrome 4 (RAD21)
- Encephalopathy, neonatal severe (MECP2)
- Kabuki syndrome 1 (KMZ2D)
- Kabuki syndrome 2 (KDM6A)
- Menke-Hennekam syndrome 1 (CREBBP)
- Menke-Hennekam syndrome 2 (EP300)
- Mental retardation, X-linked syndromic, Lubs type (MECP2)
- Mental retardation, X-linked, syndromic 13 (MECP2)
- Mowat-Wilson syndrome (ZEB2)
- Rett syndrome (MECP2)
- Rett syndrome, atypical (MECP2)
- Rett syndrome, preserved speech variant (MECP2)
- Rubinstein-Taybi syndrome 1 (CREBBP)
- Rubinstein-Taybi syndrome 2 (EP300)
Heredity, heredity patterns etc.
- AD
- AR
- XL
- XLD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q02
Bioinformatics and clinical interpretation
No text defined