Deutsch
IllnessKleefstra syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Kleefstra syndrome comprising 6 curated genes according to the clinical signs
ID
KP7120
Number of genes
6
Accredited laboratory test
Examined sequence length
3,9 kb (Core-/Core-canditate-Genes)
33,5 kb (Extended panel: incl. additional genes)
33,5 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
- Alias: 9q- syndrome [DD: Down syndrome]
- Alias: Chromosome 9q34.3 deletion syndrome
- Angelman syndrome (UBE3A)
- Kleefstra syndrome 1 (EHMT1)
- Kleefstra syndrome 2 (KMT2C)
- Mental retardation, AD 1 (MBD5)
- Pitt-Hopkins syndrome (TCF4)
- Smith-Magenis syndrome (RAI1)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined