ASHG Presentation

1. Unique
cytogenetic
dGH™
and
Pinpoint
FISH™
platform
for
disease
research,
mutation
detection
and
diagnosis
Verification
of
the
Human
Genome
Database
Contig
Orientation
using
custom
dGH
Assay

2. dGH*
Chromatid
Assays
*Directional
Genomic
Hybridization

3. Detect
Translocations
and
Inversions*
in
a
single
simple
assay
*Plus
other
rearrangements
and
many
types
of
mutations

4. Inversions
and…

5. (plus
another
inversion)
…Translocations,
Dicentrics…

6. Multi-­‐Colored
Specific
Inversion
Assay
Highlighting
Breakpoints
in
Green
(inversion)
(normal)

7. Use
dGH
Probes
for
Pinpoint
FISH
Assays

8. Pinpoint
FISH
High
Resolution
By
Design
with
6KB
Targets
High
resolution
FISH
assays
using
single
stranded
probes
• Probes
designed
using
KromaTiD’s
proprietary
bioinformatics
tools
• No
Repetitive
Sequences;
COT
Free
Metaphase
7q22CUX1
FISH
Probe
GREEN
5q31KIF20A
FISH
PROBE
RED
Interphase
7q22CUX1
FISH
Probe
GREEN
5q31KIF20A
FISH
PROBE
RED
Better
performance
in
existing
platform
and
equipment
• Applicable
in
both
interphase
and
metaphase
cells

9. Multi-­‐Colored
FISH
Assay
with
10
kb
Resolution

10. Pinpoint
FISH
Performance
Single
Stranded
Defined
Probes
Better
Performance
• 3X
the
relative
signal;
3X
the
resolution
• 6X
the
signal-­‐to-­‐noise
ratio;
50%
lower
background
Easier
to
Use
• Free
of
repetitive
sequences
by
design
-­‐-­‐
no
blocking
required
• Consistent
hybridization
quality
Flexible
Design
&
Reliable
Synthesis
• Synthetic
probes
vs.
cloned
DNA
• Detect
smaller
mutations
and
mutations
with
variable
breakpoints
PinPoint
FISH
Assay
dGH
Assay
has
equivalent
signal
for
1/3
the
target
size
Commercial
BAC
Assay

11. Nuclear
Co-­‐Localization
Assay
• Probes
Designed
for
Two
Separate
Targets
on
Chromosome
3
Positive
Negative

12. Assays
Customized
for
Your
Mutation
Detection
Needs

13. h-­‐TERC
Pinpoint
FISH
Probe

14. Multiplex
Pinpoint
FISH
Deletion
Assay
Signal
indicated
presence
of
target.
Deletion
would
be
detected
by
absence
of
expected
signal.

15. True
Single
Cell
Analysis

17. Track
Nearly
Any
Gene

18. Probes
to
the
human
RET
oncogene
(red)
and
the
remainder
of
chromosome
10
(green)
track
rearrangements
in
thyroid
cancer
cells

19. Validate
Your
Array
or
Sequencing
Results
Efficiently
and
Effectively

20. Normal
Chromosome
10
Chromosome
10
with
RET/PTC1
inversion
inversion
C10
RET/PTC1
Inversion
Assay
probes
detecting
the
RET/PTC1
inversion
(signal
conformational
change)
in
cancer
cells
positive
for
the
mutation
in
one
copy
of
Chromosome
10

21. Available
as
10
or
50
Assay
Kits
or…

22. Let
KromaTiD
perform
your
Assay
and
Deliver
the
Data

23. Screening
&
Discovery
Services
Working
with
KromaTiD
to
ID
Clinical
Mutations
1. Study
Design
• Collaboratively
define
assay
specifications
• Identify
scope
and
requirements
for
screening
2. Assay
Development
• Bioinformatics
analysis
of
target
chromosomes,
arms,
or
regions
• Paint
design
and
production
3. Validation
• Assay
positive
and
negative
controls
• Quantitative
and
qualitative
optimization
4. Screening
&
Discovery
• Assay
kit
assembly
for
customer
use
or
• Arrange
shipment
of
samples
for
KromaTiD
to
perform
screening
and
analysis

24. Custom
Targeted
Mutation
Assays
Design
to
shipping
in
three
weeks
1. Design
Collaboration
• Identify
your
target
region
or
mutation
of
interest
• Discuss
assay
format
2. Development
• Bioinformatics
analysis
of
target
region
• Probe
design
and
production
3. Validation
• Test
probes
• Assay
optimization
4. Production
• Generate
assay
kits
or
• Provide
service-­‐based
assay
and
results
CH12-­‐022
lymphoblast
cells
C22
-­‐Transloca-on
From
C11
Inversion
C22
Normal
C3
Control
C3
Control
C11-­‐Transloca-on
From
C22
Newly
Discovered
Duplication

25. How
Can
We
Help?