Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

XLRS1 (RS1) Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
XLRS1 (RS1)
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
2571
Turnaround Time:
5-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 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)

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