AGDx NGS – Lens luxation and related syndromes panel v3.0

Test code: V00009
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Hereditary ectopia lentis or lens subluxation can occur with and without systemic associations. Significant overlap can be found in the genetic mutations and pathogenesis of subluxated lenses in their isolated forms as well as with associated syndromes.

Genes

ADAMTS10, ADAMTS17, ADAMTSL4, ASPH, CBS, COL18A1, CPAMD8, FBN1, LTBP2, P3H2

Lab method

NGS Sequencing

Turnaround time

3 months

Location

Location VU

Price  1.115,00

Disorder(s)

  • Ectopia lentis (OMIM: 129600)
  • Geleophysic dysplasia (OMIM: 231050)
  • Homocystinuria (OMIM: 236200)
  • Marfan Syndrome (OMIM: 154700)
  • Weill-Marchesani syndrome (OMIM: 608328)
  • Ectopia lentis (OMIM: 129600)