Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES) via the FOXL2 Gene
Use
This test is intended for individuals who have relevant clinical features or a suspected diagnosis of Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES). It aims to detect genetic variants in the FOXL2 gene, which are associated with the condition. The results can help confirm a diagnosis and potentially guide clinical management and genetic counseling.
Special Instructions
The test utilizes Sanger sequencing methodology. It is New York approved, ensuring regulatory compliance for patients from New York State. The test can be ordered online or via a faxed test requisition form.
Limitations
This test specifically targets the FOXL2 gene and may not detect all possible genetic variants associated with BPES. Variants outside the covered regions or other related genes will not be analyzed. Detection sensitivity is determined by the quality and quantity of the DNA sample submitted.
New York Approved
Methodology
Sanger
Biomarkers
Result Turnaround Time
12-20 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided