1. PerkinElmer uniquely provides “sample to results” NGS Services by combining
quality sequencing with powerful visual data analysis.
Staffed by expert scientists with decades of genomic experiance, our CLIA
certified Sequencing Laboratory delivers consistently high quality results. We
understand the foundation of a successful NGS project requires high quality
results to ultimately save you time and money.
To build this foundation, we take the time to work with you to define a Best
Practices approach for meeting your specific requirements.
Submit your samples and we let us take care of the rest.
• Consistent, high quality results
• On demand sequencing & data analysis
• Rapid Run turnaround in as little as 4 weeks
• Experts with decades of genomic experience
• Competitive cost scaled to your needs
• CLIA certified laboratory
Key Benefits
DNA SERVICES
FOR CONSISTENT HIGH QUALITY
NEXT GENERATION SEQUENCING
AND DATA ANALYSIS
IN ONE PACKAGE

2. SEQUENCING
CONSISTENTLY HIGH QUALITY RESULTS
Once a custom panel is validated it can
be put in to production for ongoing use.
Validated Panels
Sample Intake
Library Prep & Capture
Exome and Targeted
Sequencing
Raw Data
(fastq)
Custom Capture
Custom Panel
Validated Custom Capture
Data Analysis
See Next Page
Develop a custom panel for targeted
re-sequencing of genomic regions, by
using our professional service to help
you create a custom capture design.
Custom Panel Design
Ship samples individually or batches
Quality Assessment upon arrival
Samples tracked in LIMS system
Full sample history
Submit Samples
Standard “Out-of-the-Box” kits:
Illumina Nextera
Agilent v4 and v5 Exome
TruSeq Cancer Panel
Highly automated workflows ensure consistency
Strict SOP-driven processes to eliminate errors
Extensive quality checking
Molecular barcoding for multiplexing
Agilent Certified Provider
Library Prep and Capture
(Exome and Targeted)
Multiple Illumina platforms for flexibility:
HiSeq 2000
HiSeq 2500 (Rapid Run)
MiSeq
Redundant systems to prevent downtime
Illumina Certified Service Provider
Sequencing
****** following steps optional ******
Capture Design
Agilent SureDesign
Illumina Design Studio
Library Prep & Capture
Covaris Manual Fragmentation
Amplicon or Hyb capture
Sequence
Cluster and Sequence
Efficiency Assessment
Data Analysis (see next page)
Determine Efficiency
Redesign Specific Elements
Agilent SureDesign
Illumina Design Studio
Re-Test
Repeat as needed for efficiency
Sample Tracking
Complete Sample History
Chain of custody
Quality Assessment
Flourometric quantification,
Gel Electrophoresis
Fragmentation of DNA
Covaris Manual or
Nextera Enzymatic
Quality Assessment
LabChip GXII,
Flourometric quantification
Clustering
cBot,
On-board miSeq
and HiSeq 2500
Library Prep & Capture
Covaris Manual Fragmentation
Amplicon or Hyb capture
Capture – Amplicon or Hyb
Agilent SureSelect
Illumina Nextera
Quality Assessment
LabChip GXII,
Flourometric quantification
Multiple DNA Samples

3. DATA ANALYSIS
COMPLETE BIOINFORMATICS SOLUTION
Once you have a list of qualified variants,
our visualization tools, highlighting the
complex relationship between genes
harboring these nucleotide changes is
easy with GSAE.
Discover (Tertiary)
NGS data analysis lacks of an “Out-of-
the-Box” bioinformatics solution. Use
our professional consulting services, for
expert help developing the best practices
and solutions that can quickly answer
your specific questions.
Bioinformatics Consulting
Custom Bioinformatics
Validated Bioinformatics
Solution
Load fastq files from several experimental
conditions. Once your data is loaded you
have secure anywhere/anytime access to
perform analysis.
Raw Data
The challenge of putting together all the tools
and scripting necessary for a comprehensive
and robust analysis pipeline, to go from raw
data to biological results, are provided with
our Exome and Targeted analysis solutions.
Reduce (Secondary)
A major challenge with variant analysis
is finding the critical handful of variants
from the thousands to millions of variants
discovered across a set of samples. Our tools
and experience make this process efficient
and informative, especially with downstream
discovery tools just one click away.
Compare (Tertiary)
Quality Assessment
fastqc
Alignment
BWA, Novoalign, TMAP
Post-Alignment with Picard Tools
Standard Bioinformatics
Exome/Targeted
Variant Calling
GATK
Deep Annotation
dbSNP, SNPeff, Clinvar,
1000 Genomes,COSMIC, PharmGKB
SNV/Indel Variant Report
Variant Calling
GATK
Deep Annotation
dbSNP, SNPeff, Clinvar,
1000 Genomes,COSMIC, PharmGKB
Assess Bioinformatics Tools
Identify best practices tools
Construct Complete Solution
Multiple tools are often required
Validate Solution
A reiterative process with a focus on
the biological results
Pathway ReportingEasily View Multiple Samples
Easily View Multiple Samples
Tumor / Normal
Trios or Cohort Studies

4. “Our lab is focused on finding genes involved in
movement disorders, particularly hereditary dystonia
and Parkinson’s disease. We are using PerkinElmer
DNA Sequencing Services as a NGS service provider
for our exome re-sequencing projects. PerkinElmer
provides high-quality data with a very quick turn-
around time. PerkinElmer’s very trusted and experi-
enced team also provides superior customer support
from initial planning through data delivery and bio-
informatics analysis.”
Get multiple levels of support and deliverables.Whether you
want sequencing, and/or bioinformatics, we have you covered.
Gain Flexibility
For a complete listing of our global offices, visit www.perkinelmer.com/ContactUs
Copyright ©2011, PerkinElmer, Inc. All rights reserved. PerkinElmer®
is a registered trademark of PerkinElmer, Inc. All other trademarks are the property of their respective owners.
A Team You Can Trust
Get a complete solution for Next Generation Sequencing, with
true samples to results support from a highly experienced team.
We have an outstanding track record of taking samples and
delivering consistent high quality sequencing and complete
bioinformatics, which will save you time, money and pain.
Consistent
Quality
Sequencing
Complete
Bioinformatics
Experience
Professional
Services
CLIA
Certified
DNA Samples
Sequencing
Bioinformatics
fastq,
bam, vcf
fastq
Results
Drs. Laurie Ozelius and Tania Fuchs
Mt. Sinai Medical Center
What Customers Say
“We require sequencing partners that have the abil-
ity to meet our critical turnaround times, high quality
standards and budget requirements. PerkinElmer’s
DNA Sequencing Services has exceeded all of our
expectations.”
Marc Rubenfield,Vice President
Service Delivery and Operations, Knome
“Often we have found a lack of personal attention
in the age of “personal genomics”. PerkinElmer’s
sequencing group has consistently provided us
with key updates, which has given us confidence
knowing that our samples are being processed and
not sitting in a queue. Even during the analysis of
data, we were easily able to communicate with the
bioinformatics team which was rapidly answering
our questions.”
Bernard Brais, CHUM Research Centre
Hospital Notre-Dame