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NextGeneDx®:
A new genetic diagnosis
technology
www.imegen.es
INTRODUCTION
Currently, Massive Sequencing Technologies, also called Next Generation Sequencing (NGS),
allow obtaining millions of DNA sequences simultaneously in notably reduced turnaround
times and costs. By combining the exceptional efficiency of these tools with the existent
techniques we have been able to exploit their whole utility in diagnostic applications. At
Imegen we have integrated the great benefits of NGS to the study of genomic regions
associated with genetically heterogeneous diseases.
FROM SANGER TO NGS
As experts in the field of genetic diseases clinical diagnosis, we have developed new NGSbased diagnostic services, intended to the specific, complete and simultaneous analysis of a
number of genes involved in inherited diseases.
For that, the criteria below have been followed:
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To get a diagnostic sensitivity and specificity up to Sanger standard.
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To ensure the representativeness of 100% of coding regions as well as the adjacent
intronic regions of all the genes of interest.
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To reduce the 'not useful' genomic information for every clinical problem minimizing
diagnostic uncertainty and ethically sensitive information.
CLINICAL UTILITY
The design of each one of the analysis is conducted in a specific way, in order to get all
genomic information of clinical utility and excluding the genomic information from the rest of
regions.
ADVANTAGES
Design adapted to concrete clinical matters, reducing diagnostic uncertainty and therefore,
increasing its clinical value.
High resolution and coverage (> 100X) of all coding regions of the involved exons and adjacent
intronic regions (> 10 bp).
Specificity and robustness comparable to Sanger together with superior sensitivity, since this
tool can detect mosaicisms.
Analysis and interpretation of results by using bioinformatics procedures specific to each
disease, gene cluster, and type of mutation.
Verification by Sanger of all pathological changes detected, as well as of regions not totally
covered or with reading coverage below 100X.
Versatility. The technological approach and the acquired know-how enable us to develop new
services based on NGS tailored to the needs of our customers.
INTEGRATED SERVICE
The Institute of Genomic Medicine offers an integrated service of
genetic diagnosis which includes:
Expert advice for the selection of most appropriate service.
Genetic study and bioinformatics analysis completion.
Preparation of a report of results according to the clinical
indication of the study.
Results in shorter turnaround times (see depending on the type of
study and indication).
APPLYING FOR A STUDY
Enter your keys in the computer application for analysis request through our website
www.imegen.es or register as a client to obtain your personal codes if this is the first time
that you request one analysis.
Access to Order Request and fill out the form data. The program will return a code with
which you must identify each sample record.
If required, please refer to the recommended protocol for collection and preparation of the
samples.
Contact us to manage gathering of your samples. Inform us about any clinical data
relevant to the case study and the necessary administrative documentation.
Access the website tool if you wish to check the status of your pending applications or
query the expected date of issue of the report.
Once the analysis of your samples completed, you will receive an email informing about
the availability of the report. From that point, you can enter to the website with your keys
and view / download the documents.
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RECOMMENDED SAMPLE
The recommended sample is peripheral blood with EDTA. Please, contact our lab if different
sample type.
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Extract 5-15 mL of peripheral blood using tubes with EDTA.
Keep samples at room temperature until sending them to us. If it was necessary storing
samples more than 72 hours after extraction, please keep them refreshed (never freeze
then do not even preserve them refreshed more than one month).
If you want to make prenatal diagnosis, please previously contact our lab.
Atención técnica de 9:00 a 19:00 horas ininterrumpidamente
c/ Agustín Escardino 9
Parc Científic de la Universitat de València 46980 Paterna (Valencia - España)
[email protected]
imegen.es
Tel.: +34 963 212 340
Fax: +34 963 212 341