Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

CERKL Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
CERKL
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:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 743.53: Chorioretinal degeneration, congenital
  • 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
* For price inquiries please email zebras@genedx.com

REFERENCES

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

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