CERKL Gene Sequencing

Forms and Documents

Test Details

CERKL
  • Confirmation of a clinical diagnosis
  • Determine if a sporadic case is recessive or dominant (de novo)
  • Carrier testing for family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
  • Presymptomatic testing
  • Genetic counseling
  • Capillary Sequencing

Ordering

506
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Brushes

Billing

81479x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Thiadens et al., (2010) Ophthalmology 117(4):825- 30
  2. Kitiratschky et al., (2008) Invest Ophthalmol Vis Sci 49:5015
  3. Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
  4. Rivolta C et al., (2001) Hum Mutat 18: 488-498
  5. Freund CL et al., (1997) Cell. 91(4):543- 553
  6. Lotery AJ (2000) Arch Ophthalmol]. 118(4):538-43
  7. Sohocki et al., (2000) Mol Genet Metab 70:142–150
  8. Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
  9. Allikmets, et al (1998) Gene 215: 111-122
  10. Cremers F P M et al., (1998) Hum Molec Genet 7: 355-362
  11. Wissinger et al., (2001) Am J Hum Genet 69:722-737
  12. Klevering B J et al., (2004) Eur J Hum Genet.12(12):1024-32
  13. Downes et al., (2001) Arch Ophthalmol 119:96-105
  14. Michaelides et al., (2005) Ophthalmology 112:1442-1447
  15. Kitiratschy et al., (2009) Human Mutation 30:E782-E796
  16. Littink et al., (2010) Invest Ophthalmol Vis Sci 51(11):5943-5951
  17. Wissinger et al., (2001) Am J Hum Genet 69:722-737