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LRP5 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
LRP5
Disorders:
Clinical Utility:
  • 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
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 756.52: Osteopetrosis
  • 362.16: Retinal neovascularization NOS, Neovascularization: choroidal subretinal
  • 733.02: Idiopathic osteoporosis
  • 362.12: Exudative retinopathy Coats' syndrome
  • 362.13: Changes in vascular appearance, Vascular sheathing of retina
* For price inquiries please email zebras@genedx.com

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

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