Cone-rod Synaptic Disorder

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families with a defined mutation.
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

TB09
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 368.61 Congenital night blindness, Hereditary night blindness, Oguchi's disease
* For price inquiries please email zebras@genedx.com

References

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  2. Szabo V et al., (2007) Hum Mutat 28(7):741-2
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  4. al-Jandal et al., (1999) Human Mutation 13:75-81
  5. Yamamoto H et al., (1999) Nat Genet 22:188-91
  6. Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
  7. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
  8. Yamamoto et al., (1997) Nat Genet 15(2):175-178
  9. Nakamura et al., (2004) American Academy of Ophthalmology 111(7):1410-1414
  10. Dryja et al., (1996) Nat Genet 13(3):358-60
  11. Zeitz C (2006) Am J Hum Genet 79(4):657-67
  12. Zeitz C (2005) Invest Ophthalmol Vis Sci 46(11):4328-35
  13. Pusch et al., (2000) Nat Genet 26:324-327
  14. Xiao et al., (2006) J Hum Genet 51:634-640
  15. Bech-Hansen et al., (2000) Nat Genet 26: 319- 323
  16. Li et al., (2009) Am J Hum Genet 85:711-719
  17. Audo et al., (2009) Am J Hum Genet 85: 720-729
  18. van Genderen et al., (2009) Am J Hum Genet 85: 730-736
  19. Fuchs et al., (1995) Nat Genet 10:360-362
  20. Nakazawa et al., (1998) Arch Ophthalmol 116:498-501