Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

RP1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RP1
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • To differentiate adRP from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
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:
  • 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Haim M (2002) Acta Ophthalmol Scand Suppl 80:1-34
  2. Bunker CH (1984) Am J Ophthalmol; 97: 357–6522
  3. Ziviello C (2005). J Med Genet. Jul;42(7):e47
  4. Retnet http://www.sph.uth. tmc.edu/RetNet/
  5. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Jul;47(7):3052-64
  6. Gamundi MJ (2007). Mol Vis. Jun 28;13:1031-7
  7. Kennan A (2005) Trends Genet Feb;21(2):103-10
  8. Kajiwara K (1993) Nat Genet.Mar;3(3):208-12
  9. Browne SJ (2006) Invest Ophthalmol Vis Sci. Jan;47(1):34-42
  10. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Oct;47(10):4579-88
  11. Naushin W(2007) Invest Ophthalmol Vis Sci, Mar;48(3):1330-4
  12. Dryja TP (1991) Proc. Natl. Acad. Sci. USA Vol. 88, pp. 9370-9374
  13. Riazuddin SA (2005) Invest Ophthalmol Vis Sci. Jul;46(7):2264-70
  14. Davidson et al., (2009) Am J Hum Genet 85:581-592

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