Microphthalmia/Anophthalmia/Coloboma Panel
Use
This panel is intended for individuals exhibiting clinical features or a suspected diagnosis of microphthalmia, anophthalmia, or coloboma (MAC). Genetic testing is instrumental in confirming the diagnosis, understanding the genetic etiology, and informing prognosis and management decisions. It can also aid in family planning and identifying at-risk family members.
Special Instructions
Testing is performed at PreventionGenetics LLC, under CLIA and CAP regulations. This test is not FDA-cleared or approved but is New York state approved. A completed online order or paper test requisition form (TRF) is required to initiate testing.
Limitations
The test is subject to certain limitations: not all variants within the tested genes may be detected, the ability to detect some types of variants (e.g., large insertions/deletions) may be limited, and variant interpretation is dependent on the submitted clinical information. The test cannot detect somatic mutations or indicate a treatment response.
New York Approved
Methodology
NGS (EGP)
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