Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

RLBP1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RLBP1
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.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families, in which the pathogenic mutation(s) have been identified
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:
  • 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
  • 743.53: Chorioretinal degeneration, congenital
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Dryja TP; (2000) Am J Ophthalmol 130:547-63
  2. Burstedt et al., (1999) Invest Ophthalmol Vis Sci 40:995-999
  3. Burstedt et al., (2001) Arch Ophthalmol 119:260-267
  4. Eichers et al., (2002) Am J Hum Genet 70:955-964
  5. Fishman et al., (2004) Arch Ophthalmol 122:70-75
  6. Katsanis et al., (2001) Clin Genet 59:424-429
  7. Demirci et al., (2004) Am J Ophthalmol 138:171-173
  8. Morimura et al., (1999) Invest Ophthalmol Vis Sci 40:1000-1004
  9. Maw et al., (1997) Nat Genet 17:198-200
  10. Humbert et al., (2006) Invest Ophthalmol Vis Sci 47:4719-4724
  11. Kajiwara K et al., (1993) Nat Genet 3:208-212
  12. Souied E et al., (1996) Am J Ophthalmol 121:19-25

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