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

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)

Analysis Duration

on request

Test material

Diagnostic indications

NGS +

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
FOXC2	1506	602402	NM_005251.3	AD
CDH1	2649	192090	NM_004360.5	AD
CTNND1	2907	601045	NM_001085458.2	AD
FLT4	4092	136352	NM_182925.5	AD
GATA2	1443	137295	NM_032638.5	AD
KIF11	3171	148760	NM_004523.4	AD
SOX18	1155	601618	NM_018419.3	AD, AR

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.

OMIM-Ps

ICD10 Code

No text defined