1) I have been diagnosed of one type of retinal dystrophy but I am the only case in my family. May I be diagnosed in OrigoGEN?

Yes, we can offer the diagnosis of single cases for the following diseases: patterned macular dystrophy (vitelliform and butterfly-shaped), Sorsby’s pseudoinflammatory dystrophy, Best disease, Goldmann-Favre disease, Norrie disease, Stargardt macular dystrophy, Fundus Albipunctatus, Fundus Flavimaculatus, Glaucoma, Retinosis Punctata Albescens, and X-linked Retinoschisis.

2) I have been diagnosed of Retinitis Pigmentosa. Which are the minimal requirements to be diagnosed in OrigoGEN?

X-linked Retinitis Pigmentosa diagnosis: We can offer molecular diagnosis for X-linked RP, even when only a single patient is available. Nonetheless, a more ample familiar study is recommended in order to detect putative carriers or asymptomatic family members (sisters, brothers... ).

Autosomal recessive Retinitis Pigmentosa diagnosis: In most cases, Retinitis Pigmentosa molecular diagnosis requires a family study and cannot be performed on single patients. A minimum requisite would be the analysis of two patients in addition to both parents, or two patients with two non-affected direct siblings. The more samples are available for the study, the more precise the analysis will be.

In families where the parents are consanguineous, we might exceptionally consider the diagnosis of single patients after analysis of the family pedigree.

The price of the diagnoses INCLUDES the analysis of all the family members whose samples have been sent prior the beginning of the analysis.

Autosomal dominant Retinitis Pigmentosa diagnosis: Again this molecular diagnosis requires a family study and cannot be performed on single patients. A minimum requisite would be the analysis of at least two affected patients from the same family, together with more than one non-affected direct sibling. Nonetheless, the more affected samples are available for this study, the more precise the analysis will be.

The price of the diagnoses INCLUDES the analysis of all the family members whose samples have been sent prior the beginning of the analysis.

3) I have been diagnosed of Leber Congenital Amaurosis. Which are the minimal requirements to be diagnosed in OrigoGEN?

The molecular diagnosis of either dominant or recessive Leber Congenital Amaurosis requires a family study and cannot be performed on single patients. A minimum requisite would be the analysis of two patients with the parents, or two patients with two non-affected direct siblings. However, the more samples from affected members are available for this study, the more precise the analysis will be.

In a family where the parents are consanguineous, we might exceptionally consider the diagnosis of single patients after analysis of the family pedigree.

The price of the diagnoses INCLUDES the analysis of all the family members whose samples have been sent prior the beginning of the analysis.

For any other question and doubt concerning OrigoGEN molecular diagnostics, you can contact our geneticists at,

info@origogen.com