Peter’s Anomaly

Forms and Documents

Test Details

CYP1B1
  • Confirmation of a clinical diagnosis
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

330
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81404x1
No
Yes
  • 743.2 Buphthalmos Glaucoma: congenital newborn Hydrophthalmos
  • 365.42 Glaucoma associated with anomalies of iris
  • 365.41 Glaucoma associated with chamber angle anomalies
  • 365.43 Glaucoma associated with other anterior segment anomalies
  • 365.14 Glaucoma of childhood, Infantile or juvenile glaucoma
  • 365.12 Low tension glaucoma
  • 365.10 Open-angle glaucoma, unspecified, Wide-angle glaucoma NOS
  • 365.11 Primary open angle glaucoma, Chronic simple glaucoma
* 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. Monemi et al., (2005) Hum Mol Genet 14;6: 725-733.
  6. Aung et al., (2005) ) Invest Opht and Vis Sci 46;8: 2816-2822.
  7. Kumar A (2007) Molecular Vision;13:667-676.
  8. Chavarria-Soley G., (2006) Glaucoma; 15(6):499- 504.
  9. B.J. Fan et al., (2006) Clinical Biochemistry 39 231–239.
  10. Stoilov IR., (2002) Invest Opht and Vis Sci;43:1820-1827.
  11. Bejjani BA et al (1998) Am J Hum Genet;62(2):325-33.
  12. Plasilova M., (1999) J Med Genet;36(4):290-4.
  13. Mashima Y., (2001) Invest Ophthalmol Vis Sci;42(10):2211-6.
  14. Rezaie et al. (2002) Science 295:1077-1079.

Forms and Documents

Test Details

FOXC1
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with known mutation
  • Capillary Sequencing

Ordering

1342
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
* For price inquiries please email zebras@genedx.com

References

  1. Mears et al. (1998) Am J Hum Genet 63:1316-1318
  2. Nishimura et al. (2001) American Journal of Human Genetics 68(2):364-372
  3. Priston et al. (2001) Human Molecular Genetics 10(16):1631-1638
  4. Perveen et al. (2000) Invest Ophthalmol Vis Sci.41(9):2456-2460
  5. Lines et al. (2004) Invest Ophthalmol Vis Sci.Science 45(3):828-833
  6. Hjalt et al. (2005) Expert Reviews in Molecular Medicine 7(25)1-15
  7. Semina et al. (1996) Nat Genet 14:392-399

Forms and Documents

Test Details

DCDC1, ELP4, PAX6, WT1
  • Confirmation of clinical diagnosis
  • Determination of the molecular basis of aniridia in patients at risk for Wilms tumor (Differentiating PAX6 related aniridia from WAGR syndrome)
  • Prenatal diagnosis
  • Capillary Sequencing
  • Exon Array CGH

Ordering

491
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 743.45 Aniridia
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
* For price inquiries please email zebras@genedx.com

References

  1. Glaser T et al. (1994) Nat Genet 7:463
  2. Tzoulaki I et al. BMC Genetics (2005) 6:27
  3. Gronskov K et al. (2001) Hum Genet 109:11
  4. Vincent MC et al. (2002) Eur J of Hum Genet 11:163
  5. Redeker EJ et al, (2008); Mol Vis. May 7;14:836-40

Forms and Documents

Test Details

PITX2
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with known mutation
  • Capillary Sequencing

Ordering

1341
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
* For price inquiries please email zebras@genedx.com

References

  1. Semina et al. (1996) Nat Genet 14:392-399
  2. Hjalt et al. (2005) Expert Reviews in Molecular Medicine 7(25)1-15
  3. Lines et al. (2004) Invest Ophthalmol Vis Sci.Science 45(3):828-833
  4. Perveen et al. (2000) Invest Ophthalmol Vis Sci.41(9):2456-2460
  5. Priston et al. (2001) Human Molecular Genetics 10(16):1631-1638
  6. Mears et al. (1998) Am J Hum Genet 63:1316-1318
  7. Nishimura et al. (2001) American Journal of Human Genetics 68(2):364-372