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  

dGH*  Chromatid  Assays  

*Directional  Genomic  Hybridization  

Detect  Translocations  and  Inversions*  in  a  single  simple  assay  

*Plus  other  rearrangements  and  many  types  of  mutations  

Inversions  and…  

…Translocations,  Dicentrics…  

(plus  another  inversion)  

Multi-­‐Colored  Specific  Inversion  Assay  Highlighting  Breakpoints  in  Green  

(inversion)  

(normal)  

Use  dGH  Probes  for  Pinpoint  FISH  Assays  

High  resolution  FISH  assays  using  single  stranded  probes  •  Probes  designed  using  KromaTiD’s  proprietary  

bioinformatics  tools  •  No  Repetitive  Sequences;  COT  Free  

High  Resolution  By  Design  with  6KB  Targets    

Pinpoint  FISH    

Metaphase  

7q22CUX1  FISH  Probe  GREEN  5q31KIF20A  FISH  PROBE  RED    

Interphase  

Better  performance  in  existing  platform  and  equipment  •  Applicable  in  both  interphase  and  metaphase  

cells  

 

 

7q22CUX1  FISH  Probe  GREEN  5q31KIF20A  FISH  PROBE  RED    

Multi-­‐Colored  FISH  Assay  with  10  kb  Resolution  

Pinpoint  FISH  Performance  

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  

Single  Stranded  Defined  Probes  

PinPoint  FISH  Assay  

Commercial  BAC  Assay  

dGH  Assay  has  equivalent  signal  for  1/3  the  target  size    

Nuclear  Co-­‐Localization  Assay  •  Probes  Designed  for  Two  Separate  Targets  on  

Chromosome  3    

Positive  

Negative  

Assays  Customized  for  Your  Mutation  Detection  

Needs  

h-­‐TERC  Pinpoint  FISH  Probe  

Multiplex  Pinpoint  FISH  Deletion  Assay  

Signal  indicated  presence  of  target.    Deletion  would  be  detected  by  absence  of  expected  signal.  

True  Single  Cell  Analysis  

Track  Nearly  Any  Gene  

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

Validate  Your  Array  or  Sequencing  Results  

Efficiently  and  Effectively  

Normal  Chromosome  10    Chromosome  10    

with  RET/PTC1  inversion  

inversion  

2  

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  

Available  as  10  or  50  Assay  Kits  or…  

Let  KromaTiD  perform  your  Assay  and  Deliver  

the  Data  

Screening  &  Discovery  Services  

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  

Working  with  KromaTiD  to  ID  Clinical  Mutations  

Custom  Targeted  Mutation  Assays  

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  

Design  to  shipping  in  three  weeks  

Inversion  

C22  -­‐Transloca-on  From  C11  

C22  Normal  

C3  Control  

C3  Control  

C11-­‐Transloca-on  From  C22  

CH12-­‐022  lymphoblast  cells  

Newly  Discovered  Duplication  

How  Can  We  Help?