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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:

ORDERING

Test Code:
370
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

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
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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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