Leber Congenital Amaurosis, Autosomal Recessive

Leber Congenital Amaurosis LCA is a group of congenital inherited diseases of the retina that lead to severe early infantile blindness before the age of 1 year. Clinical findings include severe and early vision loss, sensory nystagmus, amaurotic pupils, and the electroretinogram (ERG) shows severely reduced scotopic and photopic responses. A normal ERG excludes a diagnosis of LCA. Visual function and acuity in LCA patients varies widely. LCA patients often have high refractive errors as well as photoaversion (photophobia) and night blindness. Other ocular findings may include cataract and keratoconus, which is a degenerative non-inflammatory disorder of the cornea. Patients with LCA may also experience olfactory dysfunction. The ocular disorders whose phenotype overlaps with LCA include complete and incomplete achromatopsia, complete and incomplete congenital stationary night blindness, albinism, and optic nerve hypoplasia.

Tests Available

Forms and Documents

Test Info Sheet Test Requisition

Test Details

AIPL1
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

379
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. )Koenekoop R (2007) Clin and Experimental Ophthalmology 35:473-485
  2. Browne SJ (2006) Invest Ophthalmol Vis Sci 47(1):34-42
  3. den Hollander AI (2006) Am J Hum Genet 79(3):556-61
  4. Ito S (2004) Invest Ophthalmol Vis Sci 45(5):1480-5
  5. Sohocki (2000) Mol. Genet. Metab. 70, 142–150
  6. Bernal S (2003) J Med Genet 40:e89
  7. den Hollander AI (2008) Progress in Retinal and Eye Research 27:391-419
  8. Hanein S (2004) Hum Mutat 23:306-317
  9. Booij J (2007) J Med Genet 42:67-75
  10. Stone E (2007) Am J Ophthalmol 144(6):791-811
  11. Koenekoop (2005) Ophthalmic Genetics 26:175-179
  12. Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
  13. den Hollander (2001) Am J Hum Genet 69:198–203
  14. )den Hollander (2004) Hum Mutat 24:355-69
  15. den Hollander (1999) Nat Genet 23:217–221

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CEP290
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

376
4 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 Info Sheet Test Requisition

Test Details

CRB1
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

378
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
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. den Hollander (2004) Hum Mutat 24:355-69
  10. Koenekoop (2005) Ophthalmic Genetics 26:175-179
  11. Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
  12. den Hollander (2001) Am J Hum Genet 69:198–203
  13. den Hollander (1999) Nat Genet 23:217–221
  14. Sohocki (2000) Mol. Genet. Metab. 70, 142–150
  15. Bernal S (2003) J Med Genet 40:e89

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GUCY2D
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

377
4 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. Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
  2. Koenekoop (2005) Ophthalmic Genetics 26:175-179
  3. den Hollander AI (2008) Progress in Retinal and Eye Research 27:391-419
  4. Hanein S (2004) Hum Mutat 23:306-317
  5. Booij J (2007) J Med Genet 42:67-75
  6. Stone E (2007) Am J Ophthalmol 144(6):791-811
  7. Koenekoop R (2007) Clin and Experimental Ophthalmology 35:473-485
  8. Browne SJ (2006) Invest Ophthalmol Vis Sci 47(1):34-42
  9. den Hollander AI (2006) Am J Hum Genet 79(3):556-61
  10. Ito S (2004) Invest Ophthalmol Vis Sci 45(5):1480-5
  11. Sohocki (2000) Mol. Genet. Metab. 70, 142–150
  12. Bernal S (2003) J Med Genet 40:e89
  13. den Hollander (1999) Nat Genet 23:217–221
  14. den Hollander (2004) Hum Mutat 24:355-69
  15. den Hollander (2001) Am J Hum Genet 69:198–203

Forms and Documents

Test Info Sheet Test Requisition

Test Details

RPGRIP1
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2985
4 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 Info Sheet Test Requisition

Test Details

RPE65
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

345
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
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. Hanein S (2004) Hum Mutat 23:306-317
  2. Booij J (2007) J Med Genet 42:67-75
  3. Stone E (2007) Am J Ophthalmol 144(6):791-811
  4. Koenekoop R (2007) Clin and Experimental Ophthalmology 35:473-485
  5. Browne SJ (2006) Invest Ophthalmol Vis Sci 47(1):34-42
  6. den Hollander AI (2006) Am J Hum Genet 79(3):556-61
  7. Ito S (2004) Invest Ophthalmol Vis Sci 45(5):1480-5
  8. Sohocki (2000) Mol. Genet. Metab. 70, 142–150
  9. Bernal S (2003) J Med Genet 40:e89
  10. den Hollander (1999) Nat Genet 23:217–221
  11. den Hollander (2004) Hum Mutat 24:355-69
  12. den Hollander (2001) Am J Hum Genet 69:198–203
  13. den Hollander AI (2008) Progress in Retinal and Eye Research 27:391-419
  14. Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
  15. Koenekoop (2005) Ophthalmic Genetics 26:175-179

Forms and Documents

Test Requisition Test Info Sheet Phenotype/Genotype Association List LOMN Guide Fact Sheet Family Member Test Requisition Gene List

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)