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.

BCOR P85L Mutation

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
BCOR
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Mutation-specific testing of family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
370
Turnaround Time:
4-5 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:
  • 743.1: Microphthalmos, Dysplasia of eye, Hypoplasia of eye, Rudimentary eye
  • 743.4: Coloboma and other anomalies of anterior segment
  • 743: Anophthalmos
  • 759.7: Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Ng et al (2004) Nat Genet 36;4:411-416.
  2. Martinez-Garay et al (2007) Eur J Hum Genet 15:29-34.
  3. Horn et al (2005) Eur J Hum Genet 13: 563-569.
  4. Hilton et al (2009) Eur J Hum Genet 1-11.

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