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  4. IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies-A Price Comparison with Sanger Sequencing
 
conference paper

IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies-A Price Comparison with Sanger Sequencing

Schorderet, Daniel F.
•
Bernasconi, Maude
•
Tiab, Leila
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Rickman, Cb
•
Ash, Jd
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2014
Retinal Degenerative Diseases: Mechanisms And Experimental Therapy
15th International Symposium on Retinal Degeneration (RD)

The molecular diagnosis of retinal dystrophies (RD) is difficult because of genetic and clinical heterogeneity. Previously, the molecular screening of genes was done one by one, sometimes in a scheme based on the frequency of sequence variants and the number of exons/length of the candidate genes. Payment for these procedures was complicated and the sequential billing of several genes created endless paperwork. We therefore evaluated the costs of generating and sequencing a hybridization-based DNA library enriched for the 64 most frequently mutated genes in RD, called IROme, and compared them to the costs of amplifying and sequencing these genes by the Sanger method. The production cost generated by the high-throughput (HT) sequencing of IROme was established at CHF 2,875.75 per case. Sanger sequencing of the same exons cost CHF 69,399.02. Turnaround time of the analysis was 3 days for IROme. For Sanger sequencing, it could only be estimated, as we never sequenced all 64 genes in one single patient. Sale cost for IROme calculated on the basis of the sale cost of one exon by Sanger sequencing is CHF 8,445.88, which corresponds to the sale price of 40 exons. In conclusion, IROme is cheaper and faster than Sanger sequencing and therefore represents a sound approach for the diagnosis of RD, both scientifically and economically. As a drop in the costs of HT sequencing is anticipated, target resequencing might become the new gold standard in the molecular diagnosis of RD.

  • Details
  • Metrics
Type
conference paper
DOI
10.1007/978-1-4614-3209-8_22
Web of Science ID

WOS:000350418200023

PubMed ID

24664695

Author(s)
Schorderet, Daniel F.
Bernasconi, Maude
Tiab, Leila
Favez, Tatiana
Escher, Pascal
Editors
Rickman, Cb
•
Ash, Jd
•
Grimm, C
•
Hollyfield, Jg
•
Anderson, Re
•
Lavail, Mm
Date Issued

2014

Publisher

Springer-Verlag Berlin

Publisher place

Berlin

Published in
Retinal Degenerative Diseases: Mechanisms And Experimental Therapy
ISBN of the book

978-1-4614-3209-8

978-1-4614-3208-1

Total of pages

6

Series title/Series vol.

Advances in Experimental Medicine and Biology

Volume

801

Start page

171

End page

176

Subjects

Retinitis pigmentosa

•

Retinal degeneration

•

Rod-cone dystrophy

•

Cone-rod dystrophy

•

Molecular diagnosis

•

High-throughput sequencing

Editorial or Peer reviewed

REVIEWED

Written at

EPFL

EPFL units
SV  
Event nameEvent placeEvent date
15th International Symposium on Retinal Degeneration (RD)

GERMANY

JUL 16-21, 2012

Available on Infoscience
April 13, 2015
Use this identifier to reference this record
https://infoscience.epfl.ch/handle/20.500.14299/113016
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