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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessLens dislocation, differential diagnosis

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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
10 Accredited laboratory test
Examined sequence length
16,8 kb (Core-/Core-canditate-Genes)
44,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ADAMTS173288NM_139057.4AR
ADAMTSL43225NM_019032.6AR
CBS1656NM_000071.3AR
FBN18616NM_000138.5AD
ADAMTS103312NM_030957.4AR
ASPH2190NM_001164750.2AR
CPAMD85983NM_015692.5AR
FBN28739NM_001999.4AD
LTBP25466NM_000428.3AR
TGFBR11512NM_004612.4AD

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

Bioinformatics and clinical interpretation

No text defined