Accurate diagnosis of point mutations (PMs) enables the evaluation of predisposition to various diseases, adequate selection of drugs, and opens the way to the study of genes’ functions. As a trustworthy partner of in vitro diagnostics (IVD) development, Creative Biolabs is uniquely positioned to address different demands in PM diagnosis with our unparalleled, multiplexed PM detection platform. We offer a comprehensive range of PM diagnosis services characterized by quality, accuracy, sensitivity, and customization.

Point Mutation and Diseases

Point mutations (substitutions, insertions, deletions) alter the DNA sequence that is responsible for several genetic disorders and cancers. They have been important molecular biomarkers for disease diagnosis and surveillance. Accurate PMs diagnosis is essential for appropriate treatment of diseases, genetic counseling and prevention strategies. Therefore, it is extremely needed to develop new methods for mutation detection characterized with straightforward, highly specific and sensitive to low-level mutations within various sequence contexts. Numerous molecular and cytogenetic techniques have been currently available for PMs diagnosis.

Point mutations.Fig.1 Point mutations.

Diagnosis of Point Mutation

With the development of new technologies for more accurate understanding of the genome, the PM diagnosis has an increasingly central role in various areas of genetic diagnosis. Generally, PMs are identified by direct sequencing, DNA hybridization and restriction enzyme digestion methods.

  • Known Point Mutations

The identification of known point mutations usually starts with PCR amplification of the target sequence, and then combines with additional assay steps to diagnose PMs in DNA. The common methods include restriction fragment analysis, allele-specific hybridization, allele-specific amplification (ASA), single nucleotide primer extension, oligonucleotide ligation assay (OLA), DNA microarray (chip), DNA sequencing, multiplex ligation-dependent probe amplification (MLPA), etc.

  • Unknown Point Mutations

For unknown point mutations, the diagnosis methods of PMs include single-strand conformational polymorphism (SSCP), denaturing gradient gel electrophoresis (DGGE), heteroduplex analysis (HET), restriction fragment length polymorphism (RFLP) and DNA sequencing. The detection efficiency is close to 100%.

Services at Creative Biolabs

Creative Biolabs offers a full range of PMs detection services, supported by an experienced team of scientists working with the latest molecular diagnosis technology. We provide a growing portfolio of detection solutions with high precision, sensitivity and flexibility, as well as the ability to quantify variants present at low frequency. PMs diagnosis can help you:

  • Detection and quantification of the most common PMs most relevant with intratumor heterogeneity and therapy resistance.
  • Identification of rare PMs with low proportions.
  • Discovery of unknown mutations.
  • Characterization of contiguous and multivariable mutations.
  • Monitoring of the remission of the tumor using the regular detection of the PMs identified at the time of diagnosis.

Diagnosis of point mutations (PMs).Fig.2 Diagnosis of point mutations (PMs).

Case Study

Baaj, et al. (2008) reported a highly specific microarray method for PM diagnosis. A microarray was spotted with stem-loop probes, specially designed to optimize the hybridization specificity of complementary DNA sequences was used to screen for four common disease-causing mutations involved in Charcot-Marie-Tooth disease (CMT). They found only one nucleotide was different compared with healthy individual "homozygous" DNA, and the "heterozygous" mutants obtained by microarray were perfectly consistent with those determined by direct PCR sequencing. Therefore, the microarray strategy is possible, simple, and reliable for PM detection and contributes to disease IVD diagnosis and prognosis.

Simpler, faster, and cheaper PM diagnosis methods are needed for routine molecular diagnostics and population studies. Known for our deeply-rooted IVD expertise and abundant experience, Creative Biolabs has developed a delicate PM detection platform and designed one-stop solutions to provide PM diagnosis services with high quality, accuracy, sensitivity, and specificity. If you want to get more information about our PM diagnosis services, please feel free to contact us.


  1. Baaj, Y.; et al. A highly specific microarray method for point mutation detection. BioTechniques. 2008, 44(1): 119-126.

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