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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

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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