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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).
+ Mutation-specific testing + Prenatal testingThis 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).
+ Mutation-specific testing + Prenatal testingTests Available
LRP5 Gene Sequencing
FORMS AND DOCUMENTS
TEST DETAILS
- Genes:
- LRP5
- Clinical Utility:
-
- 1. Confirmation of a clinical diagnosis
- 2. Development of an appropriate management plan
- 3. Differentiation of FEVR from retinopathy of prematurity (ROP) and Coats disease
- 4. Prenatal diagnosis in families, in which the pathogenic mutation(s) have been identified
- Lab Method:
- Capillary Sequencing
ORDERING
- Test Code:
- 3272
- Turnaround Time:
- 7-8 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 81479x1
- List Price:
- $2,950.00
- Billing Information:
- View Billing Policy
- ICD Codes:
-
- 362.16: Retinal neovascularization NOS, Neovascularization: choroidal subretinal
- 362.12: Exudative retinopathy Coats' syndrome
- 362.13: Changes in vascular appearance, Vascular sheathing of retina
REFERENCES
- Kondo H et al., (2003) Br J Ophthalmol 87:1291–95
- Toomes C et al., (2004) Am J Hum Genet 74:721–30
- Jiao X et al., (2004) Hum Genet 75:878–884
- Nallathambi J et al., (2006) Mol Vis 12:1086–92
- Qin M et al., (2005) Hum Mutat 26:104-12
- Ai M et al., (2005) Am J Hum Genet 77:741-753
- Gong Y et al., (2001) Cell 107:513-523
- Janssens K et al., (2002) Hum Mol Genet 11:2385-93
- Van Wesenbeek L et al., (2003) Am J Hum Genet 72:763-771
- Chung B et al., (2009) Hum Mutat 30:641-648
- Balemans W et al., (2007) Endocrinology 148:2622-2629
- Hartikka H et al., (2005) J Bone Miner Res 20:783–789
- Crabbe P et al., (2005) J Bone Miner Res 20:1951–1959
