Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

PRPF8Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PRPF8
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:
81479x1
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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