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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 loci
Locus typeCount
Gen 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]

 

Loci

Gen

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