Invitae Oculo-Facio-Cardio-Dental Syndrome Test
Use
The test analyzes the BCOR gene associated with oculo-facio-cardio-dental syndrome (OFCD), characterized by ocular, facial, dental, and cardiac anomalies affecting only females. Genetic testing aids in definitive diagnosis due to the rare and varied symptoms of the disorder. The identification of BCOR mutations can provide clinical insights into the management of both OFCD and Lenz microphthalmia syndrome, potentially impacting medical management, prediction of patient outcomes, and understanding recurrence risks.
Special Instructions
Invitae provides a comprehensive full-gene sequencing and deletion/duplication analysis using NGS. Analysts cover clinically important gene regions, including coding exons and adjacent intronic sequences. The test routinely detects single nucleotide variants, small insertions/deletions, and exon-level copy number changes. Areas not covered, limitations, and specific variant types that may not be detected are detailed in client test reports.
Limitations
The assay may have reduced sensitivity for large insertions/deletions that are smaller than a full exon. Structural rearrangements or variants in complex sequences may not be detected. Single-exon copy number events may not be assessed due to sequence properties or data quality issues. Sequence changes in promoters and non-coding regions are usually not covered unless explicitly stated. The analysis reflects the patient's genomic DNA which may not represent constitutional DNA in rare cases of recent transfusion or hematologic conditions.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)