Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

CERKL Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
CERKL
Disorders:
Clinical Utility:
  • 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
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
506
Turnaround Time:
6-7 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:
  • 362.76: Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
  • 362.75: Other dystrophies
  • 743.56: Other retinal changes, congenital
  • 743.55: Congenital macular changes
  • 743.53: Chorioretinal degeneration, congenital
* 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

Back To Top