An individual’s genetic makeup is determined by DNA sequences comprising varied combinations of nucleotides namely, adenine, thymine, cytosine, and guanine. Alterations of the genetic code and consequent undesirable traits or disease conditions can occur due to variation in these DNA sequences. Genotyping helps determine differences in the individual’s genetic makeup wherein the individuals DNA sequence is examined using biological assays and is compared to another individuals DNA sequence or a reference sequence. Genotyping analysis plays an important role in research of genes and gene variants associated with disease. Single nucleotide polymorphisms (SNPs) are the most common form of variation which occurs on change in single nucleotide in the genome sequence. SNP genotyping is rapidly growing as a useful tool in many scientific disciplines including personalized medicine, plant and animal biotechnology.
The various methods used for genotyping analysis include polymerase chain reaction (PCR), amplified fragment length polymorphism detection (AFLPD), random amplified polymorphic detection (RAPD) of genomic DNA, allele specific oligonucleotide (ASO) probes, DNA sequencing, restriction fragment length polymorphism identification (RFLPI) of genomic DNA, and hybridization to DNA microarrays or beads. Genotyping can be applied to humans as well as microorganisms. Genotyping of viruses or bacteria may help in tracing the origin of outbreak and thus control the spread of pathogens. Genotyping develops and provides innovative technologies that enable multiplex and parallel analysis of biological systems at the cell, protein, and gene level, facilitating the rapid translation of results into biology for a better world. Genotyping researchers face major challenge in studying rare variants most effectively. Whole-genome sequencing is preferred by some for studying rare variants, however often it is too slow and too expensive while microarrays are more cost-effective and allow for higher-throughput.
The global genotyping analysis services market is segmented based on various services provided by the key players. These companies provide diverse portfolio of genotyping analysis service offerings such as human whole genome sequencing services, microarray services, long read sequencing services, certified service provider program and other services such as core lab program, service partnerships, analysis and data management solutions as custom array service, whole genome services and genome-wide genotyping services. Growing demand from pharmacogenomics, diagnostic research and animal breeding are some of the factors driving the market growth. Developing as well as developed countries are expected to witness increasing demand for genotyping services that are within the reach of a common man, since people want to understand their genetic make-up in terms of aesthetic awareness in terms of height, weight, obesity or for diseases such as diabetes, cancer, cardiovascular and others.
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Rising interest in personalized genomic analysis and growing thrust for using rapidly increasing knowledge regarding individual genetic variations to personalize diagnosis as well as treatment is also responsible for driving the growth of the market. However, this direct to consumer model for providing genetic analysis directly to an individual has been posing a problem due to concerns from FDA regulatory agencies about providing health care information directly to non-professionals. Healthcare providers may make it a general practice for routine DNA sequencing on patients thus making it needless for individuals to initiate it themselves.
On the other hand, technological limitation has been a major constrain to the growth of global genotyping analysis services market which leads to determination of only small fraction of an individual’s genotype. Moreover, issues involving intellectual property and ethics will need to be addressed before personalized medicine can become a true reality.
Some of the key service providers in global genotyping analysis market include Affymetrix, Illumina, Harlan Laboratories, Fluidigm, Life Technologies, Sequenome and Roche Diagnostics.