Retinitis Pigmentosa, Autosomal Dominant (adRP)

Retinitis Pigmentosa (RP) is a group of diseases involving progressive degeneration of the retina that leads to severe visual impairment in the 5th to 6th decade of life. The disorder usually manifests with decline and loss of night vision during adolescence, followed by loss of side vision in young adulthood, and loss of central vision in later life due to the progressive loss of rod and cone photoreceptors. Common symptoms include night blindness and a decreasing visual field, leading to tunnel vision, legal blindness or, in many cases, complete blindness. Clinical hallmarks are an abnormal fundus with bonespicule deposits, attenuated retinal vessels, abnormal, diminished, or absent electroretinographic findings

Tests Available

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

CRX
  • Confirmation of a clinical diagnosis
  • Determine if a sporadic case is recessive or dominant (de novo)
  • Carrier testing for family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
  • Presymptomatic testing
  • Capillary Sequencing

Ordering

353
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.54 Congenital folds and cysts of posterior segment
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Michaelides et al., (2005) Ophthalmology 112:1442-1447
  2. Kitiratschy et al., (2009) Human Mutation 30:E782-E796
  3. Downes et al., (2001) Arch Ophthalmol 119:96-105
  4. Klevering B J et al., (2004) Eur J Hum Genet.12(12):1024-32
  5. Cremers F P M et al., (1998) Hum Molec Genet 7: 355-362
  6. Allikmets, et al (1998) Gene 215: 111-122
  7. Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
  8. Sohocki et al., (2000) Mol Genet Metab 70:142–150
  9. Lotery AJ (2000) Arch Ophthalmol]. 118(4):538-43
  10. Freund CL et al., (1997) Cell. 91(4):543- 553
  11. Rivolta C et al., (2001) Hum Mutat 18: 488-498
  12. Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
  13. Kitiratschky et al., (2008) Invest Ophthalmol Vis Sci 49:5015

Forms and Documents

Test Details

GUCA1A
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

476
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Cremers F P M et al., (1998) Hum Molec Genet 7: 355-362
  2. Klevering B J et al., (2004) Eur J Hum Genet.12(12):1024-32
  3. Sohocki et al., (2000) Mol Genet Metab 70:142–150
  4. Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
  5. Allikmets, et al (1998) Gene 215: 111-122
  6. Freund CL et al., (1997) Cell. 91(4):543- 553
  7. Lotery AJ (2000) Arch Ophthalmol]. 118(4):538-43
  8. Rivolta C et al., (2001) Hum Mutat 18: 488-498
  9. Kitiratschky et al., (2008) Invest Ophthalmol Vis Sci 49:5015
  10. Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
  11. Downes et al., (2001) Arch Ophthalmol 119:96-105
  12. Michaelides et al., (2005) Ophthalmology 112:1442-1447
  13. Kitiratschy et al., (2009) Human Mutation 30:E782-E796
  14. Littink et al., (2010) Invest Ophthalmol Vis Sci 51(11):5943-5951
  15. Wissinger et al., (2001) Am J Hum Genet 69:722-737
  16. Wissinger et al., (2001) Am J Hum Genet 69:722-737
  17. Thiadens et al., (2010) Ophthalmology 117(4):825- 30

Forms and Documents

Test Details

IMPDH1
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

412
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. den Hollander AI (2008) Progress in Retinal and Eye Research 27:391-419
  2. Hanein S (2004) Hum Mutat 23:306-317
  3. Booij J (2007) J Med Genet 42:67-75
  4. Stone E (2007) Am J Ophthalmol 144(6):791-811
  5. Koenekoop R (2007) Clin and Experimental Ophthalmology 35:473-485
  6. Browne SJ (2006) Invest Ophthalmol Vis Sci 47(1):34-42
  7. den Hollander AI (2006) Am J Hum Genet 79(3):556-61
  8. Ito S (2004) Invest Ophthalmol Vis Sci 45(5):1480-5
  9. Sohocki (2000) Mol. Genet. Metab. 70, 142–150
  10. Bernal S (2003) J Med Genet 40:e89
  11. den Hollander (1999) Nat Genet 23:217–221
  12. den Hollander (2004) Hum Mutat 24:355-69
  13. den Hollander (2001) Am J Hum Genet 69:198–203
  14. Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
  15. Koenekoop (2005) Ophthalmic Genetics 26:175-179

Forms and Documents

Test Details

NR2E3
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

586
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81479x1
No
Yes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Audo et al., (2008) Invest Ophthalmol Vis Sci 49:2082-2093
  2. Bandah et al., (2009) Arch Ophthalmol 127(3):297-301
  3. Coppieters et al., (2007) Am J Hum Genet 81:147-157
  4. Solnas et al., (2008) Clin Genet 73:360-366
  5. Wright et al., (2004) Hum Mutat #756 Online

Forms and Documents

Test Details

PRPF3
  • Confirmation of a clinical diagnosis
  • To differentiate adRP from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2973
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. Dryja TP (1991) Proc. Natl. Acad. Sci. USA Vol. 88, pp. 9370-9374
  2. Kajiwara K (1993) Nat Genet.Mar;3(3):208-12
  3. Browne SJ (2006) Invest Ophthalmol Vis Sci. Jan;47(1):34-42
  4. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Oct;47(10):4579-88
  5. Davidson et al., (2009) Am J Hum Genet 85:581-592
  6. Riazuddin SA (2005) Invest Ophthalmol Vis Sci. Jul;46(7):2264-70
  7. Naushin W(2007) Invest Ophthalmol Vis Sci, Mar;48(3):1330-4
  8. Kennan A (2005) Trends Genet Feb;21(2):103-10
  9. Gamundi MJ (2007). Mol Vis. Jun 28;13:1031-7
  10. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Jul;47(7):3052-64
  11. Ziviello C (2005). J Med Genet. Jul;42(7):e47
  12. Retnet http://www.sph.uth. tmc.edu/RetNet/
  13. Bunker CH (1984) Am J Ophthalmol; 97: 357–6522
  14. Haim M (2002) Acta Ophthalmol Scand Suppl 80:1-34

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

RHO
  • Confirmation of a clinical diagnosis
  • To differentiate from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

298
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1
No
Yes
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

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