- Confirmation of a clinical diagnosis of anophthalmia, microphthalmia, or anterior segment dysgenesis/anomaly.
- Carrier testing in adults with a family history of anophthalmia, microphthalmia, or anterior segment dysgenesis/anomaly.
Analytical Sensitivity: ~99%
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 60 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panels
- Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel