Osteopetrosis Type 1, Autosomal Dominant

This condition is characterized by increased bone density due to impaired bone resorption by the osteoclasts. This particular disease presents with generalized osteosclerosis which is most pronounced in the cranial vault. It’s not associated with an increased fracture rate. Some patients do report experiencing pain and/or hearing loss (Van Wesenbeeck et al., 2003).

Tests Available

Forms and Documents

Test Details

LRP5
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Differentiation of FEVR from retinopathy of prematurity (ROP) and Coats disease
  • Prenatal diagnosis in families, in which the pathogenic mutation(s) have been identified
  • Capillary Sequencing

Ordering

3272
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 362.13 Changes in vascular appearance, Vascular sheathing of retina
  • 362.12 Exudative retinopathy Coats' syndrome
  • 362.16 Retinal neovascularization NOS, Neovascularization: choroidal subretinal
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References

  1. Kondo H et al., (2003) Br J Ophthalmol 87:1291–95
  2. Toomes C et al., (2004) Am J Hum Genet 74:721–30
  3. Jiao X et al., (2004) Hum Genet 75:878–884
  4. Nallathambi J et al., (2006) Mol Vis 12:1086–92
  5. Qin M et al., (2005) Hum Mutat 26:104-12
  6. Ai M et al., (2005) Am J Hum Genet 77:741-753
  7. Gong Y et al., (2001) Cell 107:513-523
  8. Janssens K et al., (2002) Hum Mol Genet 11:2385-93
  9. Van Wesenbeek L et al., (2003) Am J Hum Genet 72:763-771
  10. Chung B et al., (2009) Hum Mutat 30:641-648
  11. Balemans W et al., (2007) Endocrinology 148:2622-2629
  12. Hartikka H et al., (2005) J Bone Miner Res 20:783–789
  13. Crabbe P et al., (2005) J Bone Miner Res 20:1951–1959