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Exome
ExomeScan Priority
When time is of the utmost importance. GenomeScan knows that
in genetic testing, sometimes every day counts.
With Next Generation Sequencing (NGS) we find the mutations
that cause the patients’ clinical features. From DNA to report letter
in 12 to 14 days!
The ExomeScan Workflow
ExomeScan Priority analyses the total exome of
the patient. This identifies the exact mutation(s)
responsible for the clinical features. Through our
extremely streamlined procedure and priority access,
you will receive the results within 12 to 14 days.
To maximally increase the clinical detection rate,
we ask for samples of both proband and parents
(trio-sequencing). This allows for rapid detection of
hereditary and de novo mutations. Per individual,
over ten-thousands of variants are detected.
In case of critically ill neonates there is often little
­information available to determine the d
­ iagnosis.
Moreover, there is no time to order multiple specific
tests. Even with adult patients, a prompt diagnosis
can be essential to save the patient’s life.
After data-processing, a shortlist of suspect mutations
is referenced to selected DNA variation databases.
These databases contain all published mutations and
their clinical features. Expert laboratory geneticists then
identify the disease-causing mutation(s). You will receive
the results in a clear report letter.
Whole Exome Sequencing (WES)
WES analyses the total genome, or protein-coding
sequence. Most of the known disease causing genes
lie within this part of the genome.
Advantages of ExomeScan Priority
Use ExomeScan Priority when:
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No standard diagnostic test is available
Previously performed tests do not result in a
conclusive answer
Clinical features are atypical or multi-interpretable
Performance of multiple tests is time-consuming,
and require ‘rare’ DNA
The anamnesis does not point towards a known genetic disorder. A not yet identified gene mutation may be the cause
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Very efficient method
Analysis of ~22.000 genes in one single test
Turnaround time (TAT) is reduced only 12 to14 days
High quality, equal to the regular ExomeScan
procedure (TAT ~12 weeks)
Experienced clinical laboratory specialists interpret the data
You receive a comprehensive report letter containing the observed mutation(s)
DAY 1-5
DAY 6-8
DAY 9-11
DAY 12-13
DAY 13-14
DNA isolation,
QC, DNA
sample prep
Sequencing
on NextSeq500
Data-analysis:
filtering,
alignment, trio
variant analysis
Review of
pathogenicity of
~10.000 variants
Interpretation
and reporting by
Laboratory
Geneticists
Primary data QC
GenomeScan offers innovative NGS and microarray-based solutions for genetic research and diagnostics.
Our disease-oriented genetic tests consist of the most up-to-date gene panels.
www.genomescan.nl
T +31 71 568 1050 E [email protected]
Plesmanlaan 1d
2333 BZ Leiden
The Netherlands