21 Days from Sample to Statement

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21 Days from Sample to Statement
Product catalogue 2014
21 Days
from Sample
to Statement
Clinical genetic diagnostics and customized next-generation sequencing services
Address
Blueprint Genetics
Tukholmankatu 8
Biomedicum 2U
00290 Helsinki
Finland
Contact our Sales:
Dr. Tero-Pekka Alastalo
Dr. Juha Koskenvuo
[email protected]
Contact our Support:
[email protected]
+358 40 2511 372
3
Contents
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Introduction
What Our Service Includes
Pan Cardiomyopathy Panel
Core Cardiomyopathy Panel
Heart Panel
Noonan Syndrome Panel
Arrhythmia Panel
Brugada Panel
CPVT Panel
LQTS Panel
SQTS Panel
Marfan Panel
Aorta Panel
PAH Panel
EDMD Panel
Nephrotic Syndrome Panel
Hyperlipidemia Panel
Single Gene Tests
Additional Services
Nucleus™
Clinical Statement
Technology and Performance
31 Effective bioinformatics pipeline
33 How To Order
34 Pricing
5
Introduction
Blueprint Genetics (BpG) is an academic
What Our Service Includes
spin-off company consisting of cardiologists,
geneticists, bioinformaticians and DNA biolo- ▪▪ OS-Seq™ NGS panel designed to cover
majority of genetics associated with a
gists. We utilize a unique targeted sequencing
phenotype
technology, OS-Seq™, originally developed at
Stanford University by one of our team mem- ▪▪ Sequencing of all coding exons, exon-intron
boundaries and other regions with reported
bers and published in Nature Biotechnology
pathogenic variants
in 2011. BpG is the first company to develop
▪▪ Variant filtering using over 10,000 poputhe OS-Seq™ prototype into an industrilation-matched reference genomes and
al-scale high-throughput diagnostic tool.
exomes
▪▪ BpG Bioinformatics Pipeline utilises a proIn early June 2013, BpG launched the most
prietary and the most up-to-date mutation
comprehensive diagnostic tests for hereditary
database
cardiovascular diseases in the market. Our
mission is to provide comprehensive and cost ▪▪ Confirmation of clinically relevant variants
using Sanger sequencing
effective next-generation sequencing (NGS)
-based genetic tests for clinicians worldwide. ▪▪ Clinical statement prepared by our team of
geneticists and clinicians
Our innovations make it possible to achieve
state-of-the-art analysis and interpretation in ▪▪ 21 turn-around-time from sample to
statement
21 days from sample arrival.
▪▪ BpG laboratory is built to comply with the
international standards, ISO 17025 and
ISO 15189
▪▪ BpG is currently applying for the EMQN certificate and the CLIA certificate for US entry
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Pan Cardiomyopathy
Panel
For Syndromic and Isolated Cardiomyopathies
BpG Pan Cardiomyopathy Panel is designed
for diagnostics of classical non-syndromic
cardiomyopathies as well as a wide variety
of syndromes where cardiomyopathy can
be present. This panel is a powerful tool in
differential diagnostics when the patient with
cardiomyopathy has other organ manifestations. In addition, BpG recommends the Pan
Cardiomyopathy Panel for pediatric cardiomyopathy patients.
Different forms of isolated cardiomyopathies
covered by the test:
▪▪
▪▪
▪▪
▪▪
▪▪
Examples of syndromes covered by the test:
▪▪ Fabry disease
▪▪ Hereditary hemochromatosis
▪▪ TTR amyloidosis
▪▪
▪▪
▪▪
▪▪
▪▪
▪▪
Price: 1500 €
TAT: 21 days
HCM
DCM
ARVC
RCM
LVNC
Glycogen storage disease (many types)
Noonan syndrome
Costello syndrome
Leopard syndrome
Neuromuscular diseases (EDMD, DMD, BDM)
And many more
Genes covered: 103 genes
ABCC9
ACADVL
ACTC1
ACTN2
AGL
ANKRD1
ATP5E
BAG3
BRAF
CALR3
CASQ2
CAV3
CBL
COA5
CRYAB
CSRP3
CTF1
CTNNA3
DES
DMD
DMPK
DNAJC19
DNM1L
DOLK
DSC2
DSG2
DSP
DTNA
EMD
EYA4
FHL1
FHL2
FKTN
FOXRED1
FXN
GAA
GATAD1
GLA
GLB1
GUSB
HFE
HRAS
ILK
JPH2
JUP
KRAS
LAMA4
LAMP2
LDB3
LMNA
MAP2K1
MAP2K2
MIB1
MRPL3
MYBPC3
MYH6
MYH7
MYL2
MYL3
MYLK2
MYOM1
MYOZ2
MYPN
NEBL
NEXN
NRAS
PDLIM3
PKP2
PLN
PRKAG2
PSEN1
PSEN2
PTPN11
RAF1
RBM20
RYR2
SCN5A
SCO2
SDHA
SGCD
SHOC2
SLC25A3
SOS1
SPRED1
SYNE1
SYNE2
TAZ
TCAP
TGFB3
TMEM43
TMEM70
TMPO
TNNC1
TNNI3
TNNT2
TPM1
TRIM63
TSFM
TTN
TTR
TXNRD2
VCL
XK
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Core Cardiomyopathy
Panel
For Isolated Cardiomyopathies
BpG Core Cardiomyopathy Panel is designed
for diagnostics of classical non-syndromic
cardiomyopathies. In addition it covers some
syndromes that may manifest with isolated
cardiomyopathy. The Core Cardiomyopathy
Panel is a powerful genetic diagnostic tool for
adult-onset cardiomyopathy.
Different forms of isolated cardiomyopathies
covered by the test:
▪▪
▪▪
▪▪
▪▪
▪▪
HCM
DCM
ARVC
RCM
LVNC
Examples of syndromes covered by the test:
▪▪ Fabry disease
▪▪ PRKAG2-related HCM (glycogen storage
cardiomyopathy with WPW)
▪▪ Hereditary hemochromatosis
▪▪ TTR amyloidosis
Price: 1400 €
TAT: 21 days
Genes covered: 72 genes
ABCC9
ACTC1
ACTN2
ANKRD1
BAG3
CALR3
CAV3
CRYAB
CSRP3
CTF1
CTNNA3
DES
DMD
DNAJC19
DNM1L
DSC2
DSG2
DSP
DTNA
EMD
EYA4
FHL1
FHL2
FKTN
FXN
GATAD1
GLA
HFE
ILK
JPH2
JUP
LAMA4
LAMP2
LDB3
LMNA
MIB1
MYBPC3
MYH6
MYH7
MYL2
MYL3
MYLK2
MYOM1
MYOZ2
MYPN
NEBL
NEXN
PDLIM3
PKP2
PLN
PRKAG2
PSEN1
PSEN2
RBM20
RYR2
SCN5A
SDHA
SGCD
TAZ
TCAP
TGFB3
TMEM43
TMPO
TNNC1
TNNI3
TNNT2
TPM1
TRIM63
TTN
TTR
TXNRD2
VCL
8
Heart Panel
For Cardiomyopathies and Channelopathies
BpG Heart Panel is a comprehensive diagnostic test covering genetics of both hereditary
cardiomyopathies and channelopathies.
Differential diagnostics between ion channel disease and cardiomyopathies can be
occasionally challenging as severe ventricular
arrhythmias can manifest in cardiomyopathy
patients with subclinical or no findings of
cardiomyopathy.
BpG Heart Panel is an efficient diagnostics
tool e.g. in following cases:
▪▪ Aborted cardiac death with no hint of specific
cause
▪▪ Patient’s phenotype and family history show
features of both cardiomyopathies and channelopathies
Covered phenotypes:
▪▪
▪▪
▪▪
▪▪
▪▪
▪▪
▪▪
▪▪
▪▪
▪▪
▪▪
HCM
DCM
ARVC
RCM
LVNC
LQTS
SQTS
CPVT
Brugada Syndrome
Idiopathic VF
SIDS
Price: 1900 €
TAT: 21 days
Genes covered: 133 genes
Heart panel combines the BpG Pan Cardiomyopathy and Arrhythmia Panels.
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Noonan Syndrome Panel
For Noonan or Noonan-like Syndromes
BpG Noonan Syndrome Panel is an efficient
and rapid diagnostic tool for rasopathies,
such as Noonan (NS) or Noonan-like syndromes (NLS). Noonan syndrome is one of
the most common human syndromes with
estimated prevalence of 1 in 1000 to 1 in 2500
live births. It is clinically and genetically heterogeneous condition characterized by cardiovascular abnormalities, distinctive facial
features, chest deformity, short stature, and
other comorbidities. Differential diagnostics
is challenging in rasopathies. Molecular diagnosis forms the basis for disease specific follow-up scheme and enables evidence-based
prognostics.
Price: 1200 €
TAT: 21 days
Genes covered: 12 genes
BRAF
CBL
HRAS
KRAS
MAP2K1
MAP2K2
NRAS
PTPN11
RAF1
SHOC2
SOS1
SPRED1
BpG Noonan Syndrome Panel covers:
▪▪ Noonan Syndrome
▪▪ Noonan syndrome-like disorder with loose
anagen hair (NSLH)
▪▪ Costello syndrome
▪▪ LEOPARD
▪▪ Cardiofaciocutaneous syndrome (CFC)
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Arrhythmia Panel
Cardiac Channelopathies and ARVC
BpG Arrhythmia Panel is one of the most
efficient diagnostic tests for severe hereditary arrhythmia disorders. The panel allows
efficient differential diagnostics as it includes
majority of reported ventricular arrhythmia-associated genes. In contrast to most
available arrhythmia tests in the market,
BpG’s test covers also arrhythmogenic right
ventricle cardiomyopathy (ARVC). Clinical
presentation in ARVC may be comparable
to channelopathy and therefore BpG added
ARVC genetics to the Arrhythmia Panel. This
panel is a powerful diagnostic solution whenever other clinical assessments have failed to
reliably narrow the exact diagnosis for severe
arrhythmia episode or syncope.
BpG Arrhythmia Panel covers the following
phenotypes:
▪▪
▪▪
▪▪
▪▪
Long QT syndromes (LQTS)
Short QT syndromes (SQTS)
Brugada syndrome (BrS)
Catecholaminergic polymorphic ventricle
tachycardia (CPVT)
▪▪ Idiopathic ventricular fibrillation (iVF)
▪▪ Arrhythmogenic right ventricle
cardiomyopathy (ARVC)
Price: 1600 €
TAT: 21 days
Genes covered: 47 genes
AKAP9
ANK2
CACNA1C
CACNA2D1
CACNB2
CALM1
CALM2
CASQ2
CAV3
CTNNA3
DES
DPP6
DSC2
DSG2
DSP
GPD1L
HCN4
JUP
KCND3
KCNE1
KCNE1L
KCNE2
KCNE3
KCNH2
KCNJ2
KCNJ5
KCNJ8
KCNQ1
LDB3
LMNA
MYH6
NOS1AP
PKP2
PLN
RANGRF
RYR2
SCN1B
SCN2B
SCN3B
SCN4B
SCN5A
SLMAP
SNTA1
TGFB3
TMEM43
TRDN
TRPM4
12
Brugada Panel
For Brugada Syndrome and Brugada-like Syndromes
BpG Brugada Panel is the most efficient
diagnostic tool on the market for Brugada
syndrome (BrS) and Brugada-like syndromes
(BrLS). In addition to BrS, the genes in the
panel have been associated with early
repolarization disorders. In atypical or unclear
cases we recommend to choose the
BpG Arrhythmia Panel.
Price: 1100 €
TAT: 21 days
Genes covered: 18 genes
ANK2
CACNA1C
CACNA2D1
CACNB2
CAV3
GPD1L
HCN4
KCND3
KCNE3
KCNH2
KCNJ8
RANGRF
SCN1B
SCN2B
SCN3B
SCN5A
SLMAP
TRPM4
BpG Brugada Panel enables rapid diagnostics,
which can decrease the risk of sudden cardiac
death when compared to slow, incremental
diagnostic strategies. The rapid diagnosis may
relieve stress as prolonged pre-diagnostic phase
can be traumatic for the patient and surrounding
family.
13
CPVT Panel
For Catecholaminergic Polymorphic Ventricular Tachycardia
BpG CPVT Panel is the most efficient diagnostic tool on the market for catecholaminergic polymorphic ventricular tachycardia
(CPVT). It consists of 6 genes associated with
dominant and recessive forms of CPVT.
In atypical or unclear cases, we recommend
to choose the BpG Arrhythmia Panel.
Price: 1200 €
TAT: 21 days
Genes covered: 6 genes
ANK2
CALM1
CASQ2
KCNJ2
RYR2
TRDN
Genetic diagnostics forms an important
component of CPVT diagnostics:
▪▪ The confirmation of a clinical diagnosis in
symptomatic patients
▪▪ The identification of asymptomatic family
members at risk of CPVT
▪▪ Genetic diagnosis enables affective surveillance and early initiation of treatment
14
LQTS Panel
For Long QT Syndrome Subtypes (LQTS 1-13)
BpG LQTS Panel provides efficient and rapid
gene diagnostics for all reported long QT
syndrome subtypes (LQTS 1-13) and recently
described calmodulin 1 and 2 related LQTS.
The updated test consists of 15 genes and one
modulator gene. In atypical or unclear cases,
we recommend to choose the BpG Arrhythmia
Panel.
Genetic diagnostics for patients with suspicion
of hereditary channelopathies is supported by
international guidelines (Ackerman et al. 2011).
Price: 1000 €
TAT: 21 days
Genes covered: 15 (+1) genes
AKAP9
ANK2
CACNA1C
CALM1
CALM2
CAV3
KCNE1
KCNE2
KCNH2
KCNJ2
KCNJ5
KCNQ1
NOS1AP (Modulator gene)
SCN4B
SCN5A
SNTA1
BpG LQTS Panel is useful for:
▪▪ Determining disease-causing mutation(s) and
confirming clinical diagnosis in LQTS patients
▪▪ Determining LQTS subtype which guides risk
assessment and treatment strategy
▪▪ Assessing the risk for asymptomatic family
members of a proband with LQTS
▪▪ Genetic counseling and risk estimation of
recurrence
16
SQTS Panel
For Short QT Syndrome
BpG SQTS Panel represents a genetic diagnostic tool for short QT syndrome (SQTS).
It is a dominantly inherited genetically
heterogeneous disease with high risk of
life-threatening arrhythmias. The current
panel consists of 6 genes associated with
the disorder.
Price: 1000 €
TAT: 21 days
Genes covered: 6 genes
CACNA1C
CACNA2D1
CACNB2
KCNH2
KCNJ2
KCNQ1
In the case of atypical features or unclear clinical diagnosis, we recommend using the BpG
Arrhythmia Panel, which covers other hereditary
arrhythmias that have overlapping features with
SQTS.
17
Marfan Panel
For Marfan and Marfan-like Syndromes
BpG Marfan Panel is a powerful differential
diagnostic tool with patients manifesting a
connective tissue disorder with phenotypic
features of Marfan syndrome.
Disorders covered by Marfan Panel:
▪▪ Marfan syndrome
▪▪ Congenital contractural arachnodactyly
(CCA)
▪▪ Loeys-Dietz syndrome (LDS)
▪▪ Ehlers-Danlos syndrome type 4
(vascular type)
▪▪ Arterial tortuosity syndrome
▪▪ Shprintzen-Goldberg syndrome
If the patient has an isolated aortic aneurysm or
aortic aneurysm with mild Marfan features, we
recommend to use the BpG Aorta Panel, which
covers all syndromic and non-syndromic forms
of aortic aneurysm diseases.
Price: 1200 €
TAT: 21 days
Genes covered: 9 genes
COL3A1
FBN1
FBN2
TGFB2
TGFBR1
TGFBR2
SKI
SLC2A10
SMAD3
19
Aorta Panel
For Aortic Dilatation and Aortic Aneurysm Diseases
BpG Aorta Panel is the most efficient genetic
diagnostic tool on the market targeted for aortic dilatation and aortic aneurysm diseases.
Our updated Aorta Panel consists 18 genes
associated with syndromic and non-syndromic aortic aneurysm diseases.
Price: 1200 €
TAT: 21 days
Genes covered: 18 genes
ACTA2
COL3A1
COL5A1
COL5A2
EFEMP2
FBN1
FBN2
GATA5
MYH11
MYLK
NOTCH1
PRKG1
SKI
SLC2A10
SMAD3
TGFB2
TGFBR1
TGFBR2
Most of the aortic aneurysms associate to
non-syndromic dilatation. However, at least 20%
of aortic aneurysms are in context of syndromic
diseases such as:
▪▪ Marfan syndrome
▪▪ Loeys-Dietz syndrome
▪▪ Vascular and other Ehlers-Danlos syndromes
20
PAH Panel
For Pulmonary Arterial Hypertension
BpG PAH Panel is the most efficient genetic
diagnostic tool on the market for pulmonary arterial hypertension (PAH). As there is
genetic overlap between PAH and hereditary
hemorrhagic telangiectasia (HHT) this panel
can be used as a diagnostic tool also in HHT
patients.
Price: 1200 €
TAT: 21 days
Genes covered: 7 genes
ACVRL1
BMPR1B
BMPR2
CAV1
ENG
KCNK3
SMAD9
BpG PAH Panel is useful for:
▪▪ Classifying the subtype of pulmonary
hypertension in the patient
▪▪ Assessing the prognosis and treatment
strategy
▪▪ Genetic counseling and family member
screening
21
EDMD Panel
For Emery-Dreifuss Muscular Dystrophy
BpG offers the most comprehensive EDMD
genetic test on the market covering all known
genetics behind EDMD. Mutations in seven genes are involved in the pathogenesis
of EDMD. In February 2014, TTN gene was
linked to EDMD phenotype (Chauveau et al.
2014). Therefore BpG has added TTN into the
EDMD Panel, even though the role of TTN in
EDMD needs still further confirmation.
Price: 1300 €
TAT: 21 days
Genes covered: 7 genes
EMD
FHL1
LMNA
SYNE1
SYNE2
TMEM43
TTN
BpG EDMD Panel covers all three types of
Emery-Dreifuss muscular dystrophy:
▪▪ X-linked (EDMD types 1 and 6)
▪▪ Autosomal dominant (EDMD types 2, 4, 5, 7)
▪▪ Autosomal recessive (EDMD types 3 and X)
22
Nephrotic Syndrome Panel
For Steroid-resistant Nephrotic Syndrome
BpG Nephrotic Syndrome Panel is a powerful
genetic diagnostic tool for patients manifesting nephrotic syndrome. The panel is
especially effective for patients with suspicion of steroid-resistant nephrotic syndrome
(SRNS). Majority of the patients (80-90%) with
nephrotic syndrome are responsive to steroid
treatment, however the remaining 10-20% are
considered to have SRNS. Identification of
causative mutations can also be used in the
prediction of increased risk of post-transplant
proteinuria.
Price: 1400 €
TAT: 21 days*
* 45 days until 31.5.2014
Genes covered: 9 genes
ACTN4
CD2AP
INF2
LAMB2
NPHS1
NPHS2
PLCE1
TRPC6
WT1
Use the genetic diagnosis as the basis of:
▪▪ Optimizing treatment strategies
▪▪ Evaluation of the risk of reoccurrence after
transplantation
▪▪ Effective genetic counseling
▪▪ Risk evaluation in the family
▪▪ Prenatal testing
23
Hyperlipidemia Panel
For All Types of Hyperlipidemia
BpG Hyperlipidemia Panel is ideal for genetic
analysis of patients with virtually any type of
hyperlipidemia. All classical familial hypercholesterolemia (FH) genes (APOB, LDLR,
LDLRAP1 and PCSK9) as well as genes associated with other hyperlipidemias are covered. In addition, BpG Hyperlipidemia Panel
provides pharmacogenetic information that
guides treatment of hyperlipidemia patients,
e.g. optimizing cholesterol lowering therapies
while suspecting statin associated myopathy.
Phenotypes included in BpG Hyperlipidemia
Panel:
▪▪
▪▪
▪▪
▪▪
▪▪
▪▪
Sitosterolemia
Hypercholesterolemia
Type III hyperlipidemia
Familial hypercholesterolemia (AD and AR)
Familial Lipoprotein Lipase Deficiency
Familial hypercholesterolemia 3
Price: 1000 €
TAT: 21 days*
* 45 days until 31.5.2014
Genes covered: 8 genes + 9 pharmacogenetic polymorphisms
ABCG5
ABCG8
APOB
APOE
LDLR
LDLRAP1
LPL
PCSK9
SLCO1B1 (1 SNP)
CYP2C19 (8 SNPs)
25
Single Gene Tests
GM1 Gangliosidosis Test
GM1 gangliosidosis is a neurological and metabolic disorder that is inherited in an autosomal recessive pattern. As GM1 gangliosidosis
progresses, it destroys neurons at central and
peripheral nervous system. Three major types
have been characterized based on the age of
onset: infantile, juvenile and late-onset.
GM1 gangliosidosis is caused by mutations in
gene GLB1.
Price: 1200 €
TAT: 21 days
Becker and Duchenne Muscular
Dystrophy Test
The Becker and Duchenne Muscular Dystrophy are related conditions caused by different
mutations in the same defective gene, namely
dystrophin (DMD).
More than 2800 DMD mutations have been described in literature. Approximately half of DMD
mutations are due to complex rearrangements,
duplications, large deletions and copy number
variations, which are not within the reach of current sequencing technology. Thus above-mentioned mutations are recommended to be tested
before running the BpG’s test. Our test covers all
other known mutations including insertions and
deletions up to 50 bp.
Price: 1300 €
TAT: 21 days
27
Additional Services
Family Member Testing (FMT)
BpG provides efficient testing for family members of patients with previous genetic findings.
Family member tests can be performed either to
1) identify mutation carriers or to 2) assess the
pathogenicity of a novel variant.
Custom sequencing for research
applications
In addition to clinical diagnostics panels,
BpG provides customized sequencing projects
and co-develops customized sequencing platforms for clients.
We provide family members with either 1-3
mutations Sanger tests or a comprehensive NGS
test, which is the same panel used for index
patients.
Typical collaborators for custom sequencing
projects are research groups that have a need to
sequence small to large number of samples for
specific research questions.
Sanger and NGS tests for family members:
We can provide the following data when
requested:
▪▪
▪▪
▪▪
▪▪
1 mutation Sanger
2 mutations Sanger
3 mutations Sanger
NGS for family member
150€
225€
300€
600€
▪▪ Raw sequencing data
▪▪ Raw variant data
▪▪ Proprietary bioinformatics analysis and
interpretation to the project
28
Nucleus™
1
2
3
1. Place orders 2. Follow sample status 3. Read statements
Physicians gateway to clinical genomics
BpG hosts a highly secured web portal called
Nucleus™ (nucleus.blueprintgenetics.com),
which integrates clinicians to BpG services.
Through Nucleus™ customers can place orders,
submit patient information, follow the status of
their orders and receive genetic statements.
With the exception of signed consents, no other
paperwork is needed. Ordering is also possible
through our website or using classic PDF paper
referrals found at BpG website
(blueprintgenetics.com).
29
Clinical Statement
BpG has a team of geneticists and clinicians
Breakdown of the report
who evaluate the sequence analysis report
generated by the BpG bioinformatics pipeline. Statement
Results are assessed by the clinical evalua▪▪ Patient’s clinical history and indication for
tion team and variants graded as pathogenic
genetic testing
or likely pathogenic are confirmed by direct
▪▪ Interpretation and evaluation of variants with
Sanger capillary sequencing.
potential clinical relevance
▪▪ Related literature references
▪▪ Allele frequency evaluation using control
cohorts (e.g. 1000 Genomes and ESP)
▪▪ Variant evaluation with various mutation
prediction tools
▪▪ Clinical report prepared by our team of
specialized clinicians and geneticists
▪▪ Reporting in accordance with ACMG
guidelines
▪▪ Validation results (Sanger confirmation)
Summary of results
▪▪ Sequencing performance metrics
▪▪ Variant tables with in silico analyses and
allele frequencies in control populations
Other supporting details
▪▪
▪▪
▪▪
▪▪
Description of process steps
Summary of methods
Gene panel description
Gene specific information
30
Technology and
Performance
OS-Seq™ - unique targeted sequencing method
Per base coverage plot from BpG Aorta Panel with 16 genes. 99.8 % of target bases are covered at over 15x
sequencing coverage. The relative position within individual genes is indicated along the X-axis, whiereas
sequencing depth is depicted along the Y-axis.
Oligonucleotide-Selective Sequencing
(OS-Seq™) is an effective and high-quality
targeted NGS approach. Targeted sequencing
simplifies the genetic analysis by focusing
specifically on genes of clinical significance.
Compared to other targeted methods,
OS-Seq™ is faster and easier to use.
In addition, it has high specificity, sensitivity
and reproducibility.
High-quality sequencing
▪▪ 98-100% of base pairs of all the coding
exons of clinically significant target genes
covered
▪▪ Mean sequencing depth of over 350x
▪▪ 99.9% sensitivity and specificity
▪▪ 100% sensitivity for <5bp indels
▪▪ 80% reduction in manual sample preparation
steps compared to other methods
31
Effective bioinformatics
pipeline
Dedecated computing
infrastructure
the functional consequence of amino acid
changes are computed with multiple tools that
increase the accuracy in the identification of
potentially pathogenic variants.
Analysis of data from NGS applications is a
complex process, imposing challenging requirements both in terms of computing resources and
Results validation
software. The proprietary automated bioinforTo further aid in the process of variant interprematics pipeline developed and employed at
tation, results are matched against a compreBpG, enables fast, reliable and highly accurate
hensive database of disease-related mutations,
results.
collected and curated in-house, comprising
Minimized false positive rate
In addition to incorporating state-of-the-art
algorithms for quality control, alignment and
variant calling, the pipeline also employs filtering
steps to remove common variants based on
allele frequencies from relevant populations in
the 1000 Genomes data as well as NHLBI GO
Exome Sequencing Project. Moreover,
information from more than 2500 scientific
publications and publicly available databases.
In summary, the bioinformatics pipeline at BpG
is designed to provide our geneticists with
comprehensive and accurate information in the
minimum amount of time.
Sample requirements:
▪▪
▪▪
▪▪
▪▪
5-10 ml of EDTA blood; 3 ml infant
Purified DNA 10 μg (minimum)
Saliva (Oragene DNA OG-500 kit, DNA Genotek)
If you prefer buccal swab or filter card for test sample,
please contact our Customer Support
33
How To Order
Order
Send
Place your order by 3 alternative options:
1. As a registered customer, the easiest way to order is by using our
online purchasing and reporting system, Nucleus
(nucleus.blueprintgenetics.com)
2. Order directly from our webpage (www.blueprintgenetics.com)
3. Print PDF order form from our webpage and send the form by land mail
Send the sample to us
(the requirements are on the adjacent page).
Shipping address is:
Blueprint Genetics
Samples
Tukholmankatu 8, Biomedicum 2U
00290 Helsinki, Finland
Analysis
21 days is enough for the entire analysis:
▪▪ Sequencing
▪▪ Bioinformatics
▪▪ Interpretation
Results
Receive the clinical statement made together by our geneticists and
clinicians:
▪▪ You can simply login (online) to the Nucleus to see the results.
▪▪ If requested, the results can be sent also by regular mail.
For any questions please contact our support:
Contact
▪▪ Email: [email protected]
▪▪ p. +358 40 2511 372
34
Pricing
NGS panels
Genes
Price
Pan Cardiomyopathy Panel
103
€1,500
Core Cardiomyopathy Panel
72
€1,400
Heart Panel
133
€1,900
Noonan Syndrome Panel
12
€1,200
Arrhythmia Panel
47
€1,600
Brugada Syndrome Panel
18
€1,100
CPVT Panel
6
€1,200
LQTS Panel
15
€1,000
SQTS Panel
6
€1,000
Marfan Panel 9
€1,200
Aorta Panel
18
€1,200
PAH Panel
7
€1,200
Emery-Dreifuss MD Panel 7
€1,300
Nephrotic Syndrome Panel
9
€1,400
Hyperlipidemia Panel
8
€1,000
Becker and Duchenne MD Test
1
€1,300
GM1 Gangliosidosis Test
1
€1,200
Family member testing
Mutations
Price
Sanger: Family member test
1
€150
Sanger: Family member test
2
€225
3
€300
Sanger: Family member test NGS: Family member testing
Extra charges
€600
Price
DNA extraction per sample
€50
Results delivery by regular mail
€20
Visit our website:
www.blueprintgenetics.com
Contact our support:
[email protected]
p. +358 40 2511 372
Visit our website:
www.blueprintgenetics.com
Contact our support:
[email protected]
p. +358 40 2511 372