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XLRS1 (RS1) Del/Dup (Females)

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:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
6-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
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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