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
$990
Test Code: 1256
Deletion / Duplication
$990
Test Code: 1257
NGS/Del Dup Comprehensive
$1,365
Test Code: 1624

Related Panels
Osteopetrosis NGS panel (14 genes)
NGS $1,420
Del Dup $990
Comp $1,795

Test Details

Technical Information
Genes: 
LRP5
Disease Groups: 
Osteogenesis Imperfecta and Low Bone Density Disorders
Eye Disorders
MIM: 
259770
Billing
Price: 
$990
CPT Codes: 
81406 x 1
Ordering
SKU:
1256
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: 4 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: 4 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)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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