Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

TSPAN12 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
TSPAN12
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Differential diagnosis includes retinopathy of prematurity (ROP), Coats disease, persistent fetal vasculature syndrome, Norrie’s disease, and idiopathic retinal detachment.
  • Prenatal diagnosis in families, in which the pathogenic mutation(s) have been identified
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
3275
Turnaround Time:
5-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 362.12: Exudative retinopathy Coats' syndrome
  • 362.16: Retinal neovascularization NOS, Neovascularization: choroidal subretinal
  • 362.13: Changes in vascular appearance, Vascular sheathing of retina
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Kondo H (2003) Br J Ophthalmol; 87:1291–1295
  2. Toomes C et al., (2004) Am J Hum Genet; 74: 721–30
  3. Jiao X (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(2):104-12
  6. Riveiro-Alvarez R et al., (2005) Molec Vis 11:705-712
  7. Kondo H et al., (2007) IOVS 48:1276-1282
  8. Dickinson J et al., (2006) Clin and Exp Ophthalmol 34:682-688
  9. Chung et al., (2008) Hum Mutat 30:4, 641-648

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