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.

PRPF31 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PRPF31
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:
81479x2
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. Davidson et al., (2009) Am J Hum Genet 85:581-592.
  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. Naushin W(2007) Invest Ophthalmol Vis Sci, Mar;48(3):1330-4
  5. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Oct;47(10):4579-88
  6. Kajiwara K (1993) Nat Genet.Mar;3(3):208-12
  7. Browne SJ (2006) Invest Ophthalmol Vis Sci. Jan;47(1):34-42
  8. Kennan A (2005) Trends Genet Feb;21(2):103-10
  9. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Jul;47(7):3052-64
  10. Gamundi MJ (2007). Mol Vis. Jun 28;13:1031-7
  11. Retnet http://www.sph.uth. tmc.edu/RetNet/
  12. Ziviello C (2005). J Med Genet. Jul;42(7):e47
  13. Haim M (2002) Acta Ophthalmol Scand Suppl 80:1-34
  14. Bunker CH (1984) Am J Ophthalmol; 97: 357–6522

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