Deutsch
IllnessLens dislocation
Summary
Short information
A curated panel containing 4 or altogether 11 genes for the comprehensive analysis of the genetically caused forms of lens dislocation
ID
LP7447
Number of genes
9
Accredited laboratory test
Examined sequence length
16,8 kb (Core-/Core-canditate-Genes)
42,5 kb (Extended panel: incl. additional genes)
42,5 kb (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
Ectopia lentis is clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity
Synonyms
- Alias: Ectopia lentis syndrome
- Alias: Familial ectopia lentis
- Allelic: Acromicric dysplasia (FBN1)
- Allelic: Geleophysic dysplasia 2 (FBN1)
- Allelic: MASS syndrome (FBN1)
- Allelic: Macular degeneration, early-onset (FBN2)
- Allelic: Marfan lipodystrophy syndrome (FBN1)
- Allelic: Marfan syndrome (FBN1)
- Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
- Allelic: Stiff skin syndrome (FBN1)
- Allelic: Thrombosis, hyperhomocysteinemic (CBS)
- Anterior segment dysgenesis 8 (CPAMD8)
- Contractural arachnodactyly, congenital (FBN2)
- Ectopia lentis et pupillae (ADAMTSL4)
- Ectopia lentis, familial (FBN1)
- Ectopia lentis, isolated, AR (ADAMTSL4)
- Homocystinuria, B6-responsive + nonresponsive types (CBS)
- Loeys-Dietz syndrome 1 (TGFBR1)
- Sulfite oxidase deficiency (SUOX)
- Traboulsi syndrome (ASPH)
- Weill-Marchesani syndrome 1, AR (ADAMTS10)
- Weill-Marchesani syndrome 2, AD (FBN1)
- Weill-Marchesani syndrome 3, AR (LTBP2)
- Weill-Marchesani syndrome 4, AR (ADAMTS17)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
H27.1
Bioinformatics and clinical interpretation
No text defined