Deutsch
IllnessEmanuel syndrome, differential diagnosis [post-cytogenetic]
Summary
Short information
Comprehensive differential diagnostic panel for Emanuel syndrome comprising 4 curated genes according to the clinical signs
ID
EP9251
Number of genes
4
Accredited laboratory test
Examined sequence length
25,1 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
- Heparin-anticoagulated blood (3-5 ml; infants 1 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Synonyms
- Alias: Emanuel syndrome
- Alias: Supernumerary der(22)t(11;22) Syndrome
- Alias: der(22)t(11;22)-Syndrom
- Fryns syndrome (PIGN)
- Kabuki syndrome 1 (KMT2D)
- Kabuki syndrome 2 (KDM6A)
- Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
- Smith-Lemli-Opitz syndrome (DHCR7)
Heredity, heredity patterns etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined