Published 18/11/2011
Asper Biotech is now offering sequence analysis of the entire coding region of the ABCA4 gene.
Published 22/04/2010
Stargardt Disease
NGS panel
Genes
(full coding
region): |
ABCA4, CNGB3, ELOVL4, PROM1 |
| Lab method: |
NGS panel with CNV analysis |
| 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. |
Sequencing of the ABCA4 gene
Genes
(full coding
region): |
ABCA4 |
| Lab method: |
Next generation sequencing |
| 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. |
Deletion/duplication analysis of the ABCA4 gene
| 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. |
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling
4. Prenatal diagnosis for known familial mutation
Autosomal recessive Stargardt disease is a juvenile-onset macular dystrophy associated with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks around the macula and/or in the central and near-peripheral areas of the retina.
