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.

RLBP1 (NFRCD) Hot Spots

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RLBP1
Disorders:
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:
Capillary Sequencing

ORDERING

Test Code:
4243
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 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
  • 368.61: Congenital night blindness, Hereditary night blindness, Oguchi's disease
  • 368.69: Other night blindness
* For price inquiries please email zebras@genedx.com

REFERENCES

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

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