Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at

RDH5 Del/Dup



Clinical Utility:
  • Confirmation of a clinical diagnosis.
  • Differential diagnosis: Dietary vitamin A deficiency, vitamin A deficiency resulting from a lack of lipoprotein (Bassen-Kornzweig syndrome), a lack of serum retinoid-binding protein, gyrate atrophy or choroideremia.
  • Carrier testing for family members of an affected individual with known mutation(s).
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Exon Array CGH


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


CPT Codes:
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
ICD Codes:
  • 743.53: Chorioretinal degeneration, congenital
  • 368.61: Congenital night blindness, Hereditary night blindness, Oguchi's disease
  • 368.69: Other night blindness
  • 368.6: Night blindness, unspecified
  • 368.63: Abnormal dark adaptation curve, Abnormal threshold of cones or rods, Delayed adaptation of cones or rods
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  1. Dryja TP (2000) Am J Ophthalmol 130(5):547-63
  2. Niwa et al., (2005) Invest Ophthalmol Vis Sci 46(4):1480-5
  3. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
  4. Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
  5. Liden et al., (2001) J Biol Chem 276(52):49251-7
  6. Driessen et al., (2001) Ophthalmology 108(8):1479-84
  7. Yamamoto H et al., (1999) Nat Genet 22:188-91

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