Manitoba Oculotrichoanal Syndrome (MOTA) via the FREM1 Exon 8-23 Deletion
Use
This test is intended for individuals with a clinical suspicion of Manitoba Oculotrichoanal Syndrome (MOTA) who have previously undergone genetic testing with negative results or who carry a single variant linked to autosomal recessive disease in the relevant gene. It is also suitable for family members of patients who have tested positive for specific deletions, duplications, or inversions in the FREM1 gene. The test aims to identify the unique deletion in exons 8-23 of the FREM1 gene, assisting in the diagnosis of MOTA syndrome.
Special Instructions
The test can be expedited with a STAT option, which reduces the turnaround time to 8-10 days. STAT testing adds a 25% surcharge unless the report is delayed beyond 16 days despite blood sample submission.
Limitations
This test is specifically designed to identify the deletion in exons 8-23 of the FREM1 gene using targeted PCR. It will not detect other variants outside this region or in other genes potentially associated with similar clinical features. Negative results do not rule out the presence of other genetic anomalies contributing to the patient’s phenotype.
Methodology
PCR-based (Targeted PCR)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided