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Please consider submitting BRCA1/2 testing results from your patients to www.sharingclinicalreports.org.
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Thank you, Your GeneDx Team
Oculo Facio Cardio Dental Syndrome
Patients with OFCD present with congenital ocular defects (unilateral/bilateral microphthalmia with congenital cataracts or just with congenital cataracts alone), facial anomalies (narrow face with a broad nasal tip, separated nasal cartilage, cleft palate), congenital heart defects (septal defects), and skeletal anomalies. A unique and cardinal diagnostic feature is dental root radiculomegaly and other dental abnormalities. [...]
+ Mutation-specific testing + Prenatal testingPatients with OFCD present with congenital ocular defects (unilateral/bilateral microphthalmia with congenital cataracts or just with congenital cataracts alone), facial anomalies (narrow face with a broad nasal tip, separated nasal cartilage, cleft palate), congenital heart defects (septal defects), and skeletal anomalies. A unique and cardinal diagnostic feature is dental root radiculomegaly and other dental abnormalities. Mild mental retardation and conductive or sensorineural hearing loss are less common.
+ Mutation-specific testing + Prenatal testingTests Available
- BCOR Del/Dup
- BCOR Select Exons Sequencing & Del/Dup
- BCOR Remaining Exons Sequencing
- BCOR Gene Sequencing & Del/Dup
BCOR Del/Dup
FORMS AND DOCUMENTS
TEST DETAILS
- Genes:
- BCOR
- 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:
- Exon Array CGH
ORDERING
- Test Code:
- 906
- Turnaround Time:
- 3-4 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 84311x1, 88271x10, 88291x1
- Billing Information:
- View Billing Policy
- ICD Codes:
-
- 743: Anophthalmos
- 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
REFERENCES
- Martinez-Garay et al (2007) Eur J Hum Genet 15:29-34.
- Ng et al (2004) Nat Genet 36;4:411-416.
- Horn et al (2005) Eur J Hum Genet 13: 563-569.
- Hilton et al (2009) Eur J Hum Genet 1-11.
