- Daiger et al. (1998) Invest Ophthalmol Vis Sci, 39:S295.
- Walia, Fishman, and Kapur. (2009) Ophthalmic Genet, 30:69-75.
- Emory and Rimoin's Principles and Practice of Medical Genetics, 5th Edition
- Confirmation of a clinical diagnosis of flecked-retina disorders.
- Carrier testing in adults with a family history of flecked-retina disorders.
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.
- Flecked-retina Disorders: Deletion/Duplication Panel.