Glaucoma, Juvenile Open Angle

Glaucoma affects 67 million people worldwide, and represents a heterogeneous group of neurodegenerative disease characterized by optic disc cupping and visual field loss. Untreated, glaucoma is a leading cause of irreversible blindness caused by damage to the optic nerve. The three major types of glaucoma include primary open-angle glaucoma (POAG), primary congenital glaucoma (PCG) and primary acute closed angle glaucoma (PACG). A genetically heterogeneous group of developmental disorders known as anterior segment dysgenesis (ASD) have been reported to be associated with increased intraocular pressure (IOP) and glaucoma. Primary Open Angle Glaucoma (POAG) is the most common type of glaucoma, affecting about 37 million people. Based on the age of onset, POAG is divided into juvenile-onset POAG (JOAG) and adult-onset POAG. JOAG (age of onset 3–35 years) is associated with high intraocular pressure, visual field loss, and optic disc damage and requires early surgical therapy.

Tests Available

Forms and Documents

Test Details

MYOC
  • Confirmation of a clinical diagnosis
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

329
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Aung T (2005) Invest Ophthalmol Vis Sci. 46(8):2816-22
  2. Miyazawa et al., (2007) Molecular Vision 13: 1912-1919
  3. Weisschuh et al., (2007) Molecular Vision 13:724-729
  4. Hauser et al., (2006) ) Invest Opht and Vis Sci 47:2542-2546
  5. Aung et al., (2005) ) Invest Opht and Vis Sci 46;8: 2816-2822
  6. Rezaie et al. (2002) Science 295:1077-1079
  7. Plasilova M., (1999) J Med Genet;36(4):290-4
  8. Mashima Y., (2001) Invest Ophthalmol Vis Sci;42(10):2211-6
  9. Bejjani BA et al (1998) Am J Hum Genet;62(2):325-33
  10. Stoilov IR., (2002) Invest Opht and Vis Sci;43:1820-1827
  11. Kumar A (2007) Molecular Vision;13:667-676
  12. B.J. Fan et al., (2006) Clinical Biochemistry 39 231–239
  13. Chavarria-Soley G., (2006) Glaucoma; 15(6):499- 504
  14. Monemi et al., (2005) Hum Mol Genet 14;6: 725-733

Forms and Documents

Test Details

OPTN
  • Confirmation of a clinical diagnosis
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

346
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Kumar A (2007) Molecular Vision;13:667-676
  2. Stoilov IR., (2002) Invest Opht and Vis Sci;43:1820-1827
  3. Bejjani BA et al (1998) Am J Hum Genet;62(2):325-33
  4. B.J. Fan et al., (2006) Clinical Biochemistry 39 231–239
  5. Chavarria-Soley G., (2006) Glaucoma; 15(6):499- 504
  6. Plasilova M., (1999) J Med Genet;36(4):290-4
  7. Mashima Y., (2001) Invest Ophthalmol Vis Sci;42(10):2211-6
  8. Rezaie et al. (2002) Science 295:1077-1079
  9. Aung et al., (2005) ) Invest Opht and Vis Sci 46;8: 2816-2822
  10. Monemi et al., (2005) Hum Mol Genet 14;6: 725-733
  11. Hauser et al., (2006) ) Invest Opht and Vis Sci 47:2542-2546
  12. Weisschuh et al., (2007) Molecular Vision 13:724-729
  13. Miyazawa et al., (2007) Molecular Vision 13: 1912-1919
  14. Aung T (2005) Invest Ophthalmol Vis Sci. 46(8):2816-22