Precision Medicine

DNA Sequencing Services



Sanger Sequencing Services

Sanger sequencing, a cornerstone of clinical genomics, has empowered researchers to decipher the genetic blueprint of organisms for decades, unravelling genetic mysteries and shedding light on the underlying causes of diseases. At PeploBio, our Sanger sequencing services, facilitated by the ABI 3500 Genetic Analyser, epitomise precision, quality and reliability in genomic analysis.


Sanger Sequencing Applications

Confirming Next-Generation Sequencing Variants

Sanger sequencing serves as a vital validation tool for variants identified through next-generation sequencing (NGS) platforms, ensuring the accuracy of results. For instance, variants associated with cancer susceptibility genes like BRCA1/2,MLH1/2 and TP53 require meticulous confirmation to guide clinical decisions effectively. [1]

Clinical Diagnostics

Sanger sequencing plays a pivotal role in diagnosing genetic disorders by detecting mutations associated with various conditions, including cystic fibrosis,Huntington's disease, and hereditary cancer syndromes. [2] For instance, identifying specific mutations in the CFTR gene aids in diagnosing cystic fibrosis with precision.

Copy Number Analysis

Accurate copy number analysis, facilitated by Sanger sequencing, is crucial forunderstanding genetic disorders caused by gene dosage alterations. Disorders such as Duchenne muscular dystrophy benefit from precise copy number analysis using Sanger sequencing. [3]

Epigenetics and Methylation Analysis

Sanger sequencing enables methylation analysis, providing insights into epigenetic mechanisms underlying diseases such as cancer and neurodevelopment disorders.[4]

Genetic Disorders and Mutation Detection

Sanger sequencing is indispensable for detecting point mutations, insertions, and deletions associated with a wide range of genetic disorders, including hereditary breast and ovarian cancer syndrome. [5]

Cell and Gene Therapy:

Sanger sequencing supports the development and validation of cell and gene therapy products by confirming the integration of therapeutic transgenes into the host genome, ensuring the safety and efficacy of these innovative therapies.[6]

Forensic Analysis and STR Analysis

In forensic genetics, Sanger sequencing is instrumental in short tandem repeat (STR) analysis for human identification and forensic casework, providing highly accurate DNA profiling essential for forensic investigations.[7]


Clinical Biospecimens Analysed

PeploBio offers Sanger sequencing services for a diverse range of clinical biospecimens, including:

  • K2 EDTA whole blood

  • Saliva

  • Buccal swabs

  • Stool


Quality Assurance and Regulatory Compliance

Adhering to international standards and guidelines is paramount at PeploBio to ensure the highest quality and regulatory compliance in Sanger sequencing services. Our processes align with industry best practices, including:


Human Genetic and Genomic Testing Using Traditional and High-Throughput Nucleic Acid Sequencing Methods.

Good Clinical Practice (GCP)

Upholding rigorous standards to ensure the integrity and ethical conduct of clinical trials.

ISO Standards

Our laboratory is ISO 15189 accredited for quality management and laboratory procedures.

European Society of Human Genetics (ESHG) Best Practice Guidelines for Clinical Molecular Genetics Laboratories

Incorporating recommendations from leading genetic societies to optimise laboratory practices and ensure accurate and reliable testing.

International Council for Harmonisation (ICH) E18 Guideline

Complying with the ICH E18 Guideline on genomic sampling and management of genomic data, which provides essential guidance for genomic research and data management.

These comprehensive standards and guidelines serve as pillars of quality assurance, enabling PeploBio to deliver Sanger sequencing services of unparalleled accuracy, reliability, and regulatory compliance.


Partnering for Scientific Excellence

PeploBio is your trusted partner in advancing genomic research and diagnostic initiatives. Our team of experienced scientists and geneticists is dedicated to delivering accurate, reliable, and actionable genomic insights. Contact PeploBio today to learn more about our Sanger sequencing services and how we can support your genomic analysis needs.

Contact us to find out more

We are here to answer your questions, discuss potential collaborations, and explore how our solutions can benefit you.
Contact us


[1].Mu W, Lu HM, Chen J, Li S, Elliott AM. Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing. The Journal of Molecular Diagnostics. 2016 Nov;18(6):923–32.
[2].Bienvenu T, Lopez M, Girodon E. Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges. Genes. 2020 Jun 4;11(6):619.
‌[3] Okubo M, Minami N, Goto K, Goto Y, Noguchi S, Mitsuhashi S, et al. Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. Journal of Human Genetics. 2016 Feb 25;61(6):483–9.‌
[4] 1.Chakravarthi BVSK, Nepal S, Varambally S. Genomic and Epigenomic Alterations in Cancer. The American Journal of Pathology. 2016 Jul;186(7):1724–35. ‌
[5] Tiago, Rodrigues C, Spínola S, Micheline Campos Rezende, Simone C, Fábio Borges Mury, et al. Correlation between number of false positive variants and quality of results in Ion Torrent PGM Sequencing to screen BRCA genes. Biomédica. 2021 Dec 15;41(4):773–86.
[6] Mroske C, Rivera H, Taihra Ul-Hasan, Chatterjee S, Wong KK. A Capillary Electrophoresis Sequencing Method for the Identification of Mutations in the Inverted Terminal Repeats of Adeno-Associated Virus. Human gene therapy, Part B Methods/Human gene therapy Part B Methods. 2012 Apr 1;23(2):128–36. ‌
[7]  Butler JM. Recent advances in forensic biology and forensic DNA typing: INTERPOL review 2019–2022. Forensic Science International: Synergy. 2023;6:100311.
‌[8] International Conference on Harmonization. (2019). ICH E18 Guideline on genomic sampling and management of genomic data - Scientific guidelines.