Osteoporosis-pseudoglioma syndrome (OPPG; MIM 259770) is an autosomal recessive disorder characterized by early onset vision loss and osteoporosis. Reported eye findings include pseudoglioma, phthisis bulbi, microphthalmia, cataracts, absent anterior eye chambers and various vitreoretinal abnormalities. Individuals lacking vitreoretinal abnormalities may not have osteoporosis-pseudoglioma syndrome. Most patients are blind by 15 years of age.read more

Tests Available

By gene: LRP5
Next Generation Sequencing
Test Code: 1256
Deletion / Duplication
Test Code: 1257
NGS/Del Dup Comprehensive
Test Code: 1624

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Test Details

Technical Information
Disease Groups: 
Osteogenesis Imperfecta and Low Bone Density Disorders
Eye Disorders
CPT Codes: 
81406 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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