Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

Usher Syndrome Del/Dup Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
CDH23, CLRN1, DFNB31 (WHRN), GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Recurrence risk assessment
  • Prenatal diagnosis
Lab Method:
Next-gen Sequencing

ORDERING

Test Code:
908
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81406x1, 81479x8
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
  • 362.75: Other dystrophies
  • 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
  • 389.1: Sensorineural hearing loss, Perceptive hearing loss or deafness
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Saihan et al., (2009) Curr Opin Neurol 22:19-27
  2. Yan et al., (2010) Journal of Human Genetics 55:327-335
  3. Millan et al. (2011) Journal of Ophthalmology Volume 2011:1-8
  4. Adato et al (2002) Eur J Hum Genet 10:339-350
  5. Bitner-Glindzicz et al., (2000) Nat Genet 26:56-60
  6. Roux et al., (2006) J Med Genet 43:763-768
  7. Adato et al., (1997) Am J Hum Genet 61:813-821
  8. Hilgert et al., (2009) J Hum Med Genet 46:272-276
  9. Bennett S et al., (2004) Pharmacogenomics 5:433-8
  10. Pieke Dahl S et al., (1996 ) J Med Genet 33:753-7
  11. Weston et al., 2000 Am J Hum Genet 66:1199-210
  12. van Wijk et al., (2004) Am J Hum Genet 74:738-744; 13
  13. Aller et al., 2010 Invest Ophthalmol and Vis Sci 51(11):5480-5485
  14. Roux AF et al., (2011) Invest Ophthalmol Vis Sci. 8;52(7):4063-71
  15. Besnard T (2012) Hum Mutat 33(3):504-10

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