adRP Tier 1

Forms and Documents

Test Details

IMPDH1, PRPF8, RDS (PRPH2), RHO, RP1
  • Confirmation of a clinical diagnosis
  • To differentiate adRP from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2971
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Brushes

Billing

81404x2
No
Yes
  • 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.