Published 23/12/2010
Asper Biotech is now offering sequence analysis of the entire coding region of the RPE65 gene.
Published 22/04/2010
Autosomal Recessive Retinitis Pigmentosa
NGS panel
Genes
(full
coding region): |
ABCA4, AIPL1, ARL6, BEST1, C2orf71, C8orf37, CA4, CERKL, CLRN1, CNGA1, CNGB1, CNGB3, CRB1, CRX, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, IDH3B, IMPDH1, IMPG2, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR (ORF15 excluded), SAG, SEMA4A, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF513
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. |
Sequencing of the RPE65 gene
Genes
(full coding
region): |
RPE65 |
| Lab method: |
Sanger sequencing |
| 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: |
EYS, IMPDH1, PRPF31, RHO, RP1, RP2, RPGR |
| 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. Carrier testing for at-risk family members
3. Genetic counseling
4. Prenatal diagnosis for known familial mutation
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 which eventually leads 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 loss of the visual field. RP is usually non-syndromic but there are also many syndromic forms. The main risk factor is a family history of retinitis pigmentosa.
