RLBP1 (BRD) Hot Spots

Forms and Documents

Test Details

RLBP1
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families, in which the pathogenic mutation(s) have been identified
  • Capillary Sequencing

Ordering

4242
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Brushes

Billing

81479x1
No
Yes
* 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. Eichers et al., (2002) Am J Hum Genet 70:955-964
  4. Humbert et al., (2006) Invest Ophthalmol Vis Sci 47:4719-4724
  5. Kajiwara K et al., (1993) Nat Genet 3:208-212
  6. Souied E et al., (1996) Am J Ophthalmol 121:19-25
  7. Maw et al., (1997) Nat Genet 17:198-200
  8. Demirci et al., (2004) Am J Ophthalmol 138:171-173
  9. Morimura et al., (1999) Invest Ophthalmol Vis Sci 40:1000-1004
  10. Katsanis et al., (2001) Clin Genet 59:424-429
  11. Fishman et al., (2004) Arch Ophthalmol 122:70-75
  12. Burstedt et al., (2001) Arch Ophthalmol 119:260-267