X-Linked Retinitis Pigmentosa

Published 22/04/2010

X-Linked Retinitis Pigmentosa
NGS panel

Genes
(full coding
region):

OFD1, RP2, RPGR (ORF15 included)

Lab method:

NGS panel with CNV analysis

TAT:

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):

RP2, RPGR (ORF15 included)

Lab method:

Next generation sequencing, Sanger sequencing

TAT:

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

Sequencing of ORF15 region (RPGR gene)

Genes:

ORF15 region (RPGR gene)

Lab method:

Sanger sequencing

TAT:

2-4 weeks

Specimen requirements:

2-4 ml of blood with anticoagulant EDTA

1,5 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:

RP2, RPGR

Lab method:

MLPA

TAT:

4-6 weeks

Specimen requirements:

2-4 ml of blood with anticoagulant EDTA

Ordering information:

Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Determination of female carriers
3. Genetic counseling

Genetic testing for x-linked retinitis pigmentosa is preferred in the male patients/families with nonsyndromic retinitis pigmentosa and with family history of x-linked retinitis pigmentosa.
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Affected individuals first experience night blindness, followed by reduction of the peripheral visual field and, sometimes, loss of central vision late in the course of the disease and eventually leading to blindness after several decades. Signs and symptoms often first appear in childhood, but severe visual problems do not usually develop until early adulthood. In some cases, RP is characterized by cone-rod dystrophy, in which the decrease in visual acuity predominates over the visual field loss. RP is usually nonsyndromic but there are also many syndromic forms. The main risk factor is a family history of retinitis pigmentosa.

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