In observance of Thanksgiving, GeneDx will be closed and will not accept specimens on Thursday, November 26, 2015. We will accept specimens but operate on a modified schedule on Friday, November 27, 2015. We will resume our normal schedule on Saturday, November 28, 2015. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
BCOR P85L Mutation
FORMS AND DOCUMENTS
- 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
- Test Code:
- Turnaround Time:
- 4-5 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- Alternative Specimen:
- Oral Rinse (30-40 mL), Dried Blood Spots, Buccal Brushes
- CPT Codes:
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy * For ICD9 to ICD10 conversion please follow this link https://www.aapc.com/icd-10/codes/
- ICD-9 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
- Ng et al (2004) Nat Genet 36;4:411-416.
- Martinez-Garay et al (2007) Eur J Hum Genet 15:29-34.
- Horn et al (2005) Eur J Hum Genet 13: 563-569.
- Hilton et al (2009) Eur J Hum Genet 1-11.