Sequencing of the RPE65 gene

Asper Biotech is now offering sequence analysis of the entire coding region of the RPE65 gene.

Leber Congenital Amaurosis

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


Price / TAT: 1051 EUR / 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

Targeted regions sequencing

Genes (targeted regions): AIPL1, CRB1, CRX, GUCY2D, LRAT, TULP1, MERTK, CEP290, RDH12, RPGRIP1, LCA5, RPE65, SPATA7, IQCB, RD3

Price / TAT: 450 EUR / 2-4 weeks

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.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: AIPL1, CEP290, CRB1, CRX, GUCY2D, RDH12, RPE65, RPGRIP1

Lab method: MLPA

Price / TAT: 806 EUR / 4-6 weeks

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.


Ordering information: Go to online ordering or download sample submission form

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.