Reportlinker Adds Cytogenetics - technologies, markets and companies

Jun 07, 2010, 14:06 ET from Reportlinker

NEW YORK, June 7 /PRNewswire/ -- announces that a new market research report is available in its catalogue:

Cytogenetics - technologies,markets and companies


This report deals with cytogenetics in a broader sense rather than the classical use mainly to describe the chromosome structure and identify abnormalities related to disease. In the age of molecular biology, it is also referred to as molecular cytogenetics. Historical landmarks in the evolution of cytogenetics are reviewed since the first images of chromosomes were made in 1879. The scope of cytogenetics includes several technologies besides fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH), and multicolor FISH. Molecular cytogenetics includes application of nanobiotechnology, microarrays, real-time polymerase chain reaction (PCR), in vivo imaging, and single molecule detection. Bioinformatics is described briefly as it plays an important role in analyzing data from many of these technologies.

FISH remains the single most important technology in cytogenetics. Several innovations are described of which the most important are single copy FISH, in vivo FISH (imaging of nucleic acids in living cells) and nanotechnology-based FISH. The unique character of peptide nucleic acid (PNA) allows these probes to hybridize to target nucleic acid molecules more rapidly and with higher affinity and specificity compared with DNA probes. PNA-FISH is more suited for rapid diagnosis of infections. RNA-FISH and locked nucleic acids (LNAs), are also described.

Microarray/biochip-based technologies for cytogenetics promise to speed up detection of chromosome aberrations now examined by FISH. Other important genomic technologies are whole genome expression array and direct molecular analysis without amplification. Analysis of single-cell gene expression promises a more precise understanding of human disease pathogenesis and has important diagnostic applications. Optical Mapping can survey entire human genomes for insertions/deletions, which account for a significantly greater proportion of genetic variation between closely-related genomes as compared to single nucleotide polymorphisms (SNPs), and are a major cause of gene defects.

Technologies encompassed within molecular imaging include optical imaging, magnetic resonance imaging (MRI) and nuclear medicine techniques. Positron emission tomography (PET) is the most sensitive and specific technique for imaging molecular pathways in vivo in humans. Cytogenetics can be refined by application of cytogenetics at single molecule level. Nanotechnology has facilitated the development of technology for single molecule imaging. Atomic force microscope (AFM) has become a well-established technique for imaging single biomolecules under physiological conditions. The scanning probe microscope (SPM) system is emerging as an increasingly important tool for non-intrusive interrogation of biomolecular systems in vitro and have been applied to improve FISH. Another example of application of nanobiotechnology is QD (quantum dot)-FISH probes, which can detect down to the single molecule level.

There are connections between cytogenetics and biomarkers of genetic disorders as well as cancer. Biomarkers are very important for molecular diagnostics. Not only are molecular diagnostic technologies used for discovery of biomarkers, biomarkers are the basis of several diagnostics. As a means to understand pathomechanism of disease and as links between diagnostics and therapeutics, biomarkers are playing a role in development of personalized medicine. Application of cytogenetics extend beyond genetic disorder and cancer to diagnosis of several other diseases. Other important applications are drug discovery, and development of personalized medicine.

The chapter on markets provides a global perspective of the cytogenetics business in the major markets: US, Western Europe (including France, Germany, Italy, Spain, and the UK), and Japan. The total figures for the market are also broken out according to the technologies and major disease areas in which they are applied. Markets figure are given for the year 2009 and estimates are made for the years 2014 and 2019. Advantages and limitations of various technologies have been pointed out throughout the report but this chapter includes SWOT (Strengths, Weaknesses, Opportunities and Threats) analysis of some of the competing technologies including the following: conventional FISH, innovative FISH technologies, PCR-based assays, and single molecule imaging. Unfulfilled needs in cytogenetics market are depicted graphically. Among various technologies, FISH is most advanced and less opportunities for further development than single molecule detection, which is in infancy and has more future potential.

The report includes Summary profiles of 67 companies relevant to cytogenetics along with their 56 collaborations. Companies developing innovative technologies as well as those supplying equipment/services/reagents are identified. The report text is supplemented with 27 Tables and 9 figures. Selected 180 references are included in the bibliography.


0.Executive Summary9



Historical evolution of cytogenetics11

Scope of cytogenetics12

Molecular cytogenetics13

Basics of molecular biology relevant to cytogenetics13



DNA transcription14


Mitochondrial DNA15


The genetic code15

Gene expression16

The human genome16

Variations in the human genome17

Variations in DNA sequences17

Single nucleotide polymorphisms17

Genotype and haplotypes17

Complex chromosomal rearrangements18

Insertions and deletions in the human genome18

Large scale variation in human genome19

Variation in copy number in the human genome19

Structural variations in the human genome20

Mapping and sequencing of structural variation from human genomes21

Replication of the DNA helix21

2.Technologies used for cytogenetics23


Quantitative fluorescent polymerase chain reaction23

RNA interference and cytogenetics24

RNA-induced transcriptional silencing complex24

Single cell genetics by siRNA ablation24

RNAi and cancer cytogenetics25

Role of miRNAs in cancer cytogenetics25

Preimplantation genetic diagnosis25

Preimplantation genetic haplotyping26

Bioinformatics and cytogenetics26

FISH probe design software26

LS-CAP algorithm26

Distance-based clustering of CGH data27

3.Fluorescent In Situ Hybridization29


Innovative FISH technologies31

Direct visual in situ hybridization31

Direct labeled Satellite FISH probes31

Chromogenic in situ hybridization (CISH)31

Primed in situ labeling32

Interphase FISH32

FISH with telomere-specific probes33

High-throughput quantitative FISH33

Multicolor FISH34

Multicolor chromosome banding34

Fiber FISH34

Use of peptide nucleic acid with FISH34


Use of locked nucleic acids with FISH36

Automation of FISH36

Single copy FISH probes37


In vivo FISH38

Applications of FISH38

Companies involved in FISH diagnostics39

4.Genomic Technologies relevant to Cytogenetics41


Microarrays/biochips for cytogenetics41

Tissue microarrays41

Chromosome copy number analysis41

Combination of FISH and gene chips42


Molecular Combing43

High density oligonucleotide arrays43

Next Generation Screening®43

Comparative genomic hybridization44

Array-based comparative genomic hybridization45

Comparison of array CGH and multipoint FISH46

Combined use of tissue microarrays and array CGH47

Single-cell array CGH47

Regulatory requirements for array CGH48

Whole genome expression microarrays48

Life Technologies Expression Array System48

Arrayit's® H25K49

Optical Mapping49

Single cell cytogenetics50

Single cell PCR50



Digital Counting51

Analysis of single-cell gene expression51

Application of single cell cytogenetics in preimplantation genetic testing52

Direct molecular analysis without amplification52

5.Molecular Imaging & Single Molecular Detection55

Molecular imaging55

Companies involved in molecular imaging55

Single molecule detection56

Spectrally resolved fluorescence lifetime imaging microscopy56

Single-molecule fluorescence resonance energy transfer57

Confocal laser scanning57

PCR systems for single molecule detection57

Real-time PCR57

Digital PCR58

Emulsion PCR58

Rolling circle amplification technology59

Microfluidic assay for protein expression at the single molecule level59

Bioinformatic and single molecule detection59

6.Role of Nanobiotechnology in Cytogenetics61


Nanobiology and the cell61

Visualization on nanoscale62

Application of AFM for biomolecular imaging62

Future insights into biomolecular processes by AFM62

Scanning probe microscopy63

Near-field scanning optical microscopy63

Multiple single-molecule fluorescence microscopy63

Nanoscale scanning electron microscopy63

Nanotechnology-based FISH64

Study of chromosomes by atomic force microscopy64

Quantum dot FISH64

Nanobiotechnology for single molecule detection65

Nanolaser spectroscopy for detection of cancer in single cells65

Carbon nanotube transistors for genetic screening66

Quantum-dots-FRET nanosensors for single molecule detection66

3D single-molecular imaging by nanotechnology66

Manipulation of DNA sequence by use of nanoparticles67

Nanofluidic/nanoarray devices to detect a single molecule of DNA67

Nanopore technology67

Portable nanocantilever system for diagnosis68


7.Biomarkers and Cytogenetics71



Biomarkers and cytogenetics71

Cancer biomarkers71

Technologies for detection of cancer biomarkers72

Telomerase as a biomarker of cancer72

Digital karyotyping for cancer biomarkers72

Optical systems for in vivo molecular imaging of cancer73

Circulating cancer cells in blood as biomarkers of cancer73

Array CGH for biomarker discovery in cancer74

Genetic biomarkers74

8.Applications of Cytogenetics75


Applications of cytogenetics in research75

Cytogenetics of embryonic stem cells75

Genetic disorders76

Technologies for diagnosis of genetic disorders76

Cytogenetic microarrays for diagnosis of mental retardation76

Detection of copy number variations in genetic disorders77

Detection of non-recurrent DNA rearrangements by aCGH77

Quantitative fluorescent PCR78

Representational oligonucleotide microarray analysis78

SignatureChip®-based diagnostics for cytogenetic abnormalities78

Cytogenetics in prenatal diagnosis79

aCGH for prenatal diagnosis79

BAC HD Scan test79

FISH for prenatal diagnosis79

PCR for prenatal diagnosis of trisomy 2180

Plasma DNA sequencing to detect fetal chromosomal aneuploidies80

Concluding remarks and future prospects of prenatal diagnosis81

Cytogenetics in preimplantation genetic diagnosis81

Array CGH for PGD82

Fluorescent PCR for PGD82

FISH for PGD82

PGD using whole genome amplification83

Conditions detected by preimplantation cytogenetic diagnosis84

The future of preimplantation genetic diagnosis84

Disorders of the nervous system84

Cardiovascular disorders85


PNA-FISH for diagnosis of infections85

Diagnosis of bacterial infections at single molecule level86

Detection of single virus particles86

Role of cytogenetics in drug discovery and development86

Role of cytogenetics in the development of personalized medicine87

Relation of cytogenetics to personalized medicine87

Cytomics as a basis for personalized medicine88

Molecular imaging and personalized medicine89

Cytogenetics for gender determination89

Gender determination in competitive sport89

Gender determination in forensic cases90

Regulatory aspects of FISH90

9.Cancer Cytogenetics91

Cancer genetics91

Cytogenetic abnormalities in cancer91

Cytogenetic technologies for molecular diagnosis of cancer91

Applications of array CGH in oncology92

Cytogenetics of tumor cells in body fluids93

Gene expression profiles predict chromosomal instability in tumors93

Loss of heterozygosity94

Molecular Combing for cancer diagnosis94

Mutation detection at molecular level94

Proteomic identification of oncogenic chromosomal translocation partners95

Tissue microarrays for cancer diagnosis95

Applications of cytogenetics in molecular diagnosis of cancer96

Molecular cytogenetics in hematological malignancies96

Chromosome translocations in leukemias96

Cytogenetics diagnostics for leukemia97

Detection of p53 deletions in chronic lymphocytic leukemia97

Cytogenetics of lymphomas98

Cytogenetics of myelodysplastic syndrome98

Cytogenetics of plasma cell myeloma99

Bladder cancer99

Bone and soft tissue tumors100

Brain tumors101

Breast cancer101

Chromosomal aberrations in breast carcinomas101

FISH vs CISH and SISH for determining of HER-2/neu amplification102

Genomic profiles of breast cancer102

Colorectal cancer103

Lung cancer103

Ovarian cancer104

aCGH analyses of cisplatin-resistant ovarian cancer cells104

Prostate cancer105

Renal cancer105

Thyroid cancer105

Cytogenetics-based anticancer strategies106

Significance of double minutes106

Prognostic and therapeutic significance of gene amplifications106

Allele-specific inhibition107

RNAi-based approach for leukemia107

Online resources for cancer cytogenetics107

The Cancer Genome Atlas108

10.Cytogenetics Markets111


Methods for study of cytogenetic markets111

The overall market for cytogenetics111

Cytogenetic markets according to technologies112

Market for FISH technologies112

Sorting the markets of overlapping technologies112

Markets for cytogenetics according to therapeutic areas113

SWOT of competing technologies115

Unfulfilled needs116

Limitations of current technologies117

Promising future developments in cytogenetics117

Commercial aspects of genome sequencing technologies117

Cost of genotyping118


Profiles of companies121




Table 1 1: Historical landmarks in the evolution of cytogenetics11

Table 2 1: A classification of technologies used for cytogenetics23

Table 3 1: Classification and scope of FISH and related technologies30

Table 3 2: A selection of companies with FISH diagnostics39

Table 4 1: Microarray/biochip-based technologies for cytogenetics41

Table 4 2: Chromosomal structural abnormalities detected by CGH44

Table 4 3: Companies developing whole genome chips/microarrays48

Table 5 1: Companies involved in developing molecular imaging55

Table 5 2: Technologies for single molecule detection56

Table 6 1: Nanobiotechnologies for single molecule detection65

Table 7 1: Types of cancer biomarkers relevant to cytogenetics72

Table 8 1: Applications of cytogenetics75

Table 8 2: Application of preimplantation cytogenetic diagnosis in monogenic disorders84

Table 9 1: WHO classification of myelodysplastic syndromes99

Table 9 2: Fusion genes in malignant bone and soft tissue tumors100

Table 9 3: Fusion genes in adenocarcinoma of the thyroid106

Table 10 1: Global cytogenetics markets 2009-2019111

Table 10 2: Cytogenetic markets according to technologies from 2009-2019112

Table 10 3: Market size for cytogenetics according to applications 2009-2019113

Table 10 4: SWOT of conventional FISH115

Table 10 5: SWOT of innovative FISH technologies115

Table 10 6: SWOT of PCR-based assays115

Table 10 7: SWOT of aCGH116

Table 10 8: SWOT of single molecule imaging116

Table 11 1: Major suppliers of reagents/services/equipment for cytogenetics121

Table 11 2: Major consumers of reagents122

Table 11 3: Companies developing innovative technologies in cytogenetics122

Table 11 4: Collaborations in cytogenetics201


Figure 6 1: Scheme of a novel optical mRNA biosensor69

Figure 8 1: Relation of various technologies to drug discovery and development87

Figure 8 2: Relation of cytogenetics to personalized medicine88

Figure 8 3: Relation of cytomics to personalized medicine89

Figure 9 1: Basic scheme of genome-wide screening techniques for cancer91

Figure 10 1: Distribution of applications of cytogenetics in the year 2014.114

Figure 10 2: Distribution of applications of cytogenetics in the year 2019.114

Figure 10 3: Unfulfilled needs in cytogenetics according to technologies116

Figure 10 4: Unfulfilled needs in cytogenetics according to areas of application117

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Nicolas Bombourg



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