Vitelliform Macular Dystrophy
NGS panel

Genes
(full coding
region:		 BEST1, IMPG1, PRPH2
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Sequencing of the BEST1 gene

Genes
(full coding
region):		 BEST1
Lab method: NGS
TAT: 2-4 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: BEST1, PRPH2
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Genetic counseling
3. Prenatal diagnosis for known familial mutation

Vitelliform macular dystrophy is an autosomal dominant disorder associated with a vitelliform “egg yolk” lesion that results from abnormal accumulation of lipofuscin in the retinal pigment epithelium (RPE). Lesions are usually bilateral, but can be unilateral. In the early stages, accumulation of lipofuscin-like material in the RPE is observed but acuity remains excellent. Later, the affected area becomes deeply and irregularly pigmented, and as the disorder is progressive, it eventually leads to vision loss. Some cases exhibit multiple extramacular lesions, hemorrhaging, or macular holes. Vitelliform macular dystrophy generally reveals itself in childhood or sometimes later during the teenage years. Severity of vision loss and age of onset exhibit inter- and intra-familial variability.