Invitae Oculo-Facio-Cardio-Dental Syndrome Test


Test description

The Invitae Oculo-Facio-Cardio-Dental Syndrome Test analyzes BCOR, which is the gene that is associated with oculo-facio-cardio-dental syndrome (OFCD). OFCD is characterized by ocular, facial, dental, and cardiac anomalies and affects only females. Clinical diagnosis can be challenging due to the wide variety of symptoms and the rarity of the disorder; genetic testing may provide a definitive diagnosis. Mutations in the BCOR gene also cause Lenz microphthalmia (LMS). Loss-of-function mutations in BCOR are associated with OFCD, but only a single missense mutation, p.Pro85Leu, has been identified in patients with LMS.

Identifying a genetic cause of symptoms that may be related to OFCD or LMS can impact medical management, provide a predicted outcome for the patient, and indicate the recurrence risk.

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Primary panel (1 gene)


Alternative tests to consider

The Invitae Isolated and Syndromic Congenital Heart Disease Panel has been designed to provide a broad genetic analysis of congenital heart disease. It may be considered as an alternative to testing for specific disorders. Depending on the individual’s clinical and family history, this broader panel may be appropriate. It broader panel can be ordered at no additional charge.

  • Oculo-facio-cardio-dental syndrome (OFCD)
  • Lenz microphthalmia syndrome (LMS)

Oculo-facio-cardio-dental (OFCD) syndrome is a multisystemic condition that affects the development of the eyes, face, heart, and teeth in females.

  • Eye findings can include microphthalmia, cataracts, and an increased risk for glaucoma. These complications can eventually result in vision loss or blindness.
  • Facial features may include deep-set eyes, a broad, clefted nasal tip, cleft palate, facial elongation, and a high nasal bridge.
  • Heart defects can include atrial septal defect (ASD), ventricular septal defect (VSD), and mitral valve prolapse.
  • Dental anomalies often involve radiculomegaly. Individuals with OFCD can also have delayed loss of primary teeth, delayed tooth eruption, missing or abnormally small teeth, and defective tooth enamel.

Lenz microphthalmia (LMS) syndrome is characterized by asymmetrical eye anomalies, including microphthalmia or anophthalmia, coloboma, or cataract. Mild-to-moderate learning disabilities and urogenital anomalies are the most common associated clinical findings. The clinical presentation is highly variable, even within the same family.

BCOR is the only gene that is currently associated with OFCD. The percentage of individuals with OFCD who have a pathogenic change in BCOR is unknown.

OFCD is inherited in an X-linked dominant pattern and is lethal in males. LMS is inherited in an X-linked recessive pattern.

Penetrance of OFCD is unknown. Radiculomegaly of the canines is the most consistent finding among patients. There is extreme variable expressivity, even in the same family. Dental and ocular abnormalities occur more frequently than those involving the facial and cardiac systems. Part of this variability may be a result of skewed X-inactivation. Some features of the condition, such as heart defects and dental anomalies, manifest early in development; other features, such as cataracts and vision impairment, may not develop until later in life.

OFCD is extremely rare. Incidence is estimated at fewer than 1 in 1,000,000.

The rarity and variable expressivity of this disorder makes clinical diagnosis challenging. Genetic testing can diagnose or rule out OFCD in individuals with an ambiguous clinical presentation. Genetic testing should be considered for individuals presenting with radiculomegaly.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
BCOR NM_017745.5