Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

RDH5 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RDH5
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

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
  • 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
* For price inquiries please email zebras@genedx.com

REFERENCES

  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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