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.

PRPF8 Select Exons Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PRPF8
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:
300
Turnaround Time:
4-5 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:
  • 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

REFERENCES

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

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