XLRS1 (RS1) Gene Sequencing

Forms and Documents

Test Details

XLRS1 (RS1)
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

2571
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Brushes

Billing

81479x1
No
Yes
  • 362.73 Vitreoretinal dystrophies, Juvenile retinoschisis
* For price inquiries please email zebras@genedx.com

References

  1. The Retinoschisis Consortium, Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis, Human Molecular Genetics 7:1185-1192 (1998)
  2. Hiriyanna, K.T. et al., Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change, Human Mutation 14:423-427 (1999)
  3. Sieving PA et al., Juvenile Retinoschisis: A Model For Molecular Diagnostic Testing of X-Linked Ophthalmic Disease, Am Ophth Soc Vol XCV11 (1999)