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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
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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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