Achromatopsia

Achromatopsia is a rare congenital autosomal recessive disorder. This disorder is characterized by a complete inability to discriminate colors, a low visual acuity, nystagmus, and photodysphoria (extreme photophobia) under daylight conditions. Examination of these patients by ophthalmoscope reveals a mild foveal hypoplasia, while ERG recordings and psychophysical tests reveal absent photopic responses and intact scotopic responses (Kohl et al., 2005, Kolh et al., 2000, Sundin et al., 2000, Wiszniewski et al., 2007). Mutations in the CNGA3, CNGB3, and the GNAT2 genea, have been shown to cause achromatopsia.

Tests Available

Forms and Documents

Test Details

CNGA3
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

514
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 368.54 Achromatopsia Monochromatism (cone) (rod)
* For price inquiries please email zebras@genedx.com

References

  1. Kolh et al., (2000) Hum Mol Genet 9:2107-2116
  2. Kohl et al., (2005) Eur J Him Genet 13:302-308
  3. Thiadens et al., (2010) Ophthalmology 117:825-830
  4. Wiszniewski et al., (2007) Hum Genet 121:433-439
  5. Sundin et al., (2000) Nat Genet 25:289-293

Forms and Documents

Test Details

CNGB3
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

513
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 368.54 Achromatopsia Monochromatism (cone) (rod)
* For price inquiries please email zebras@genedx.com

References

  1. Thiadens et al., (2010) Ophthalmology 117:825-830
  2. Kohl et al., (2005) Eur J Him Genet 13:302-308
  3. Kolh et al., (2000) Hum Mol Genet 9:2107-2116
  4. Sundin et al., (2000) Nat Genet 25:289-293
  5. Wiszniewski et al., (2007) Hum Genet 121:433-439

Forms and Documents

Test Details

  • 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)