Deutsch
IllnessLymphedema-distichiasis syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Lymphedema-distiasis syndrome comprising 7 curated genes according to the clinical signs
ID
LP7116
Number of genes
7
Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
17,0 kb (Extended panel: incl. additional genes)
17,0 kb (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
Synonyms
- Blepharocheilodontic syndrome 1 (CDH1)
- Blepharocheilodontic syndrome 2 (CTNND1)
- Emberger syndrome (GATA2)
- Hemangioma, capillary infantile, somatic (FLT4)
- Hypotrichosis-lymphedema-telangiectasia syndrome (SOX18)
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (SOX18)
- Lymphatic malformation 1 (FLT4)
- Lymphedema-distichiasis syndrome (FOXC2)
- Lymphedema-distichiasis syndrome with renal disease + diabetes mellitus (FOXC2)
- Microcephaly with/-out chorioretinopathy, lymphedema, or mental retardation (KIF11)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined