Published 23/12/2010
Asper Biotech is now offering sequence analysis of the entire coding region of the RPE65 gene.
Published 22/04/2010
Leber Congenital Amaurosis
NGS panel
Genes
(full
coding region): |
AIPL1, CABP4, CEP290 (intronic position c.2991+1655A>G included), CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1
List of diseases covered by the panel |
| 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. |
Deletion/duplication analysis
| Genes: |
AIPL1, CEP290, CRB1, CRX, GUCY2D, LCA5, RDH12, RPE65, RPGRIP1 |
| Specimen requirements: |
2-4 ml of blood with anticoagulant EDTA
2 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. Prediction of disease progression
3. Carrier testing for at-risk family members
4. Genetic counseling
5. Prenatal diagnosis for known familial mutation
Leber congenital amaurosis (LCA) is an early-onset and severe retinal dystrophy leading to congenital blindness. It is diagnosed by a severely reduced or absent electroretinogram (ERG) before one year of age. Shortly after birth, patients usually manifest poor fixation, nystagmus, photophobia, and amaurotic pupils. Later, in most patients, a large variety of retinal changes appear, including salt-and-pepper pigmentation, attenuated vessels, and atrophy of the retinal pigment epithelium (RPE). LCA is mostly inherited as an autosomal recessive disorder.
