Macular Dystrophy, Autosomal Dominant

Forms and Documents

Test Details

BEST1
  • Confirmation of clinical diagnosis
  • To differentiate different type of Bestrophinopathies and other types of macular degeneration
  • Pre-symptomatic testing
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

403
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 743.55 Congenital macular changes
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
* For price inquiries please email zebras@genedx.com

References

  1. Lafaut et al., (2001) Arch Clin Exp Ophthalmol 239:575-582
  2. Seddon et al., (2001) Ophthalmology 108:2060-2067
  3. White et al., (2000) Hum Mutat 15:301-308
  4. Yardley et al., (2004) Invest Ophthalmol Vis Sci 45:3683-3689
  5. Kramer et al., (2000) Eur J Hum Genet 8:286-292
  6. Kramer et al., (2003) Hum Mutat Mutation in Brief #660 Online
  7. Burgess et al., (2009) J Med Genet 46:620-625
  8. Davidson et al., (2009) Am J Hum Genet 85:581-592
  9. Burgess et al., (2008) Am J Hum Genet 82:19-31
  10. Boon et al., (2009) Progress in Retinal and Eye Research 28:187-205

Forms and Documents

Test Details

RDS (PRPH2)
  • Confirmation of a clinical diagnosis
  • To differentiate adRP from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

299
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Browne SJ (2006) Invest Ophthalmol Vis Sci. Jan;47(1):34-42
  2. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Oct;47(10):4579-88
  3. Naushin W(2007) Invest Ophthalmol Vis Sci, Mar;48(3):1330-4
  4. Dryja TP (1991) Proc. Natl. Acad. Sci. USA Vol. 88, pp. 9370-9374
  5. Riazuddin SA (2005) Invest Ophthalmol Vis Sci. Jul;46(7):2264-70
  6. Davidson et al., (2009) Am J Hum Genet 85:581-592
  7. Kajiwara K (1993) Nat Genet.Mar;3(3):208-12
  8. Gamundi MJ (2007). Mol Vis. Jun 28;13:1031-7
  9. Kennan A (2005) Trends Genet Feb;21(2):103-10
  10. Retnet http://www.sph.uth. tmc.edu/RetNet/
  11. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Jul;47(7):3052-64
  12. Bunker CH (1984) Am J Ophthalmol; 97: 357–6522
  13. Ziviello C (2005). J Med Genet. Jul;42(7):e47
  14. Haim M (2002) Acta Ophthalmol Scand Suppl 80:1-34

Forms and Documents

Test Details

(GJC3), GCSH, GDF1, GDF3, GDF6, GFER, GJA1, GJA8, GJB2, GJB6, GJE1, GLB1, GLDC, GLIS2, GLIS3, GM2A, GMPPA
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with retinal dystrophies
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Next-Gen Sequencing

Ordering

J905
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81434x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Sahel et al. (2014) Cold Spring Harb Perspect Med 5 (2):a017111 (PMID: 25324231)
  2. Kocur et al. (2002) Br J Ophthalmol 86 (7):716-22 (PMID: 12084735);
  3. Ayuso et al. (2010) Genome Med 2 (5):34 (PMID: 20519033)
  4. Finger et al. (2011) Invest. Ophthalmol. Vis. Sci. 52 (7):4381-9 (PMID: 21447690)
  5. den Hollander et al. (2006) American Journal Of Human Genetics 79 (3):556-61 (PMID: 16909394)
  6. Braun et al. (2013) Human Molecular Genetics 22 (25):5136-45 (PMID: 23918662)
  7. Zernant et al. (2014) Hum. Mol. Genet. 23 (25):6797-806 (PMID: 25082829)
  8. Bauwens et al. (2015) Hum. Mutat. 36 (1):39-42 (PMID: 25346251)
  9. Schulz et al. (2017) Invest. Ophthalmol. Vis. Sci. 58 (1):394-403 (PMID: 28118664)
  10. Beryozkin et al. (2015) Sci Rep 5 :13187 (PMID: 26306921)
  11. Lee et al. (2015) Am. J. Ophthalmol. 160 (2):354-363.e9 (PMID: 25910913)
  12. de Castro-Miro et al. (2016) PLoS ONE 11 (12):e0168966 (PMID: 28005958)
  13. Haer-Wigman et al. (2017) Eur. J. Hum. Genet. 25 (5):591-599 (PMID: 28224992)
  14. Riera et al. (2017) Sci Rep 7 :42078 (PMID: 28181551)
  15. Carss et al. (2017) Am. J. Hum. Genet. 100 (1):75-90 (PMID: 28041643)
  16. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)