Updates in Asper Ophthalmics

Published 12/10/2018

Asper Ophthalmics testing menu has been updated with Senior-Loken Syndrome gene panel. We have also added a number of genes to Cone-Rod Dystrophy, Vitelliform Macular Dystrophy, and comprehensive eye diseases panels. Comprehensive eye diseases panel now covers 283 genes associated with different eye disorders. View updated testing options at www.asperbio.com/asper-ophthalmics/

Vitelliform Macular Dystrophy

Published 22/04/2010

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

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

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.