Gene

LRP5 - osteoporosis-pseudoglioma syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 493

LRP5 - osteoporosis-pseudoglioma syndrome



€ 493

LRP5 - osteoporosis-pseudoglioma syndrome

This test is available for the following conditions:

  • Conditions > Skeletal > Osteoporosis-pseudoglioma syndrome (OPPG)
  • Conditions > Vision impairment / blindness > Osteoporosis-pseudoglioma syndrome (OPPG)

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Renal disorders panel
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis
  • Vision disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 603506
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 493