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

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

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.