GeneDx :: Tests :: Genetic Testing of the BCOR Gene in OculoFacioCardioDental Syndrome (OFCD) and Lenz Microphthalmia Syndrome (LMS)

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Genetic Testing of the BCOR Gene in OculoFacioCardioDental Syndrome (OFCD) and Lenz Microphthalmia Syndrome (LMS)

BCOR

Mutations in the BCOR gene have been implicated in the cause of two X-linked microphthalmia syndromes.

OculoFacioCardioDental Syndrome (OFCD): 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. Mild mental retardation and conductive or sensorineural hearing loss are less common.

X-linked Lenz Microphthalmia Syndrome (LMS): LMS can be highly variable in its phenotypic presentation. The eyes are usually asymmetrically affected with ocular anomalies, such as microphthalmia/ anophthalmia, coloboma and cataract. Mild-moderate mental retardation and urogenital anomalies (hypospadias, cryptorchidism, renal aplasia/hypoplasia, hydroureter) are the most common associated findings. Hearing loss has also been reported.

GeneDx offers testing for:

OFCD (female patients): Tier 1: Sequence analysis of select exons (partial exon 6, exons 9-13) and deletion/duplication testing by targeted array CGH analysis with exon-level resolution (ExonArrayDx). This Tier 1 test is expected to detect all mutations reported to date.
OFCD (female patients): Tier 2: Sequence analysis of the rest of the coding sequence of BCOR (remaining part of exon 6, exons 4-5, and 14-17).
This testing requires a blood specimen (1-5ml in EDTA).

LMS: Targeted analysis for the p.P85L mutation, the only mutation in the BCOR gene reported in patients with LMS.

If a familial mutation has been identified, mutation-specific testing of family members and prenatal diagnosis is offered.

These tests can be formed on a blood specimen (1-5ml in EDTA) or on buccal brushes (GeneDx kit only).

Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options