Card kit

Invitae Oculo-Facio-Cardio-Dental Syndrome Test

Test code: 04213

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.

Disorders tested

Ordering information

Turnaround time:

10–21 calendar days (14 days on average)

New York approved:

Yes

Preferred specimen:

3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)

Alternate specimens:

Saliva, buccal swab, and gDNA are also accepted.
Learn more about specimen requirementsRequest a specimen collection kit

Clinical description and sensitivity

Clinical description:

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.

Clinical description and sensitivity

Assay 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 and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Assay information

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Primary panel

1 gene selected
BCOR

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