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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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