Osteoporosis-pseudoglioma syndrome (OPPG)

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

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