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 Hot Spots

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RP1
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • To differentiate adRP from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
295
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81404x1
New York Approved:
No
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. Naushin W(2007) Invest Ophthalmol Vis Sci, Mar;48(3):1330-4
  2. Dryja TP (1991) Proc. Natl. Acad. Sci. USA Vol. 88, pp. 9370-9374
  3. Riazuddin SA (2005) Invest Ophthalmol Vis Sci. Jul;46(7):2264-70
  4. Davidson et al., (2009) Am J Hum Genet 85:581-592
  5. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Oct;47(10):4579-88
  6. Browne SJ (2006) Invest Ophthalmol Vis Sci. Jan;47(1):34-42
  7. Kajiwara K (1993) Nat Genet.Mar;3(3):208-12
  8. Kennan A (2005) Trends Genet Feb;21(2):103-10
  9. Gamundi MJ (2007). Mol Vis. Jun 28;13:1031-7
  10. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Jul;47(7):3052-64
  11. Retnet http://www.sph.uth. tmc.edu/RetNet/
  12. Ziviello C (2005). J Med Genet. Jul;42(7):e47
  13. Bunker CH (1984) Am J Ophthalmol; 97: 357–6522
  14. Haim M (2002) Acta Ophthalmol Scand Suppl 80:1-34

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