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BCOR Select Exons Sequencing & Del/Dup
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|Exon Array CGH
- Test Code:
- Turnaround Time:
- 6-8 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy
- ICD Codes:
- 759.7: Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
- 743.1: Microphthalmos, Dysplasia of eye, Hypoplasia of eye, Rudimentary eye
- 743.4: Coloboma and other anomalies of anterior segment
- 743: Anophthalmos
- 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.