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GTR Home > Tests > FBN1 - MLPA

FBN1 - MLPA

  • GTR Test IDHelp: GTR000600284.1
  • Last updated: 2022-11-01
  • Annual Review past due read more
  • Test version history

Clinical testHelp for Ectopia lentis 1, isolated, autosomal dominant
Offered by Centogene AG - the Rare Disease Company

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from OMIM

Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (Greene et al., 2010). Citing the revised Ghent criteria for Marfan syndrome, Loeys et al. (2010) proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS). Genetic Heterogeneity of Isolated Ectopia Lentis An autosomal recessive form of isolated ectopia lentis (ECTOL2; 225100) is caused by mutation in the ADAMTSL4 gene (610113).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Ectopia lentis

Inheritance pattern

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Autosomal dominant inheritance

Conditions tested

Target population

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Not provided

Clinical validity

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This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.

Citations

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Clinical utility

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Not provided

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