Vitreoretinopathy: Deletion/Duplication Panel
Condition Description
Vitreoretinopathy is a general term used to describe retinal disease
that also affects the vitreous body. Several types of
vitreoretinopathies exist giving rise to a spectrum of phenotypic
presentations such as retinal detachment (or traction), optically empty
vitreous, fibrillary condensation, cataract, and neovascularization. The
condition includes, but is not limited to, familial exudative
vitreoretinopathy, Norrie disease, Wagner syndrome, snowflake
vitreoretinal degeneration, Stickler syndrome and retinal vasculopathy
with cerebral leukodystrophy. The vitreoretinopathies may be inherited
in an autosomal dominant, autosomal recessive or X-linked manner
(complex inheritance has also been suggested).
References:
References:
- A. O. Edwards (2008) Eye 22, 1233–1242
- Daiger et al. (1998) Invest Ophthalmol Vis Sci 39:S295.
- OMIM
- GeneReviews
Genes (9)
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Indications
This test is indicated for:
- Confirmation of a clinical diagnosis of vitreoretinopathy.
- Carrier testing in adults with a family history of vitreoretinopathy.
Methodology
Deletion/Duplication Analysis: DNA
isolated from peripheral
blood is hybridized to a gene-targeted CGH array to detect deletions and
duplications. The targeted CGH array has overlapping probes that cover
the entire genomic region.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Detection
Deletion/Duplication: Detection is limited to duplications and
deletions. The CGH array will not detect point or intronic pathogenic
variants. Results of molecular analysis must be interpreted in the
context of the patient's clinical and/or biochemical phenotype.
Specimen Requirements
When sample fails to meet the acceptable criteria, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
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: 10 ugIsolation 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.
Special Instructions
Please include fundus photographs, electroretinogram (ERG) findings,
visual field findings, and visual acuity, if available, for expert
review and clinical correlation with test results.
Related Tests
- Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panels.
- Vitreoretinopathy: Sequencing Panel.