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 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]
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.
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]
Sanger sequencing enables methylation analysis, providing insights into epigenetic mechanisms underlying diseases such as cancer and neurodevelopment disorders.[4]
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]
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]
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]
PeploBio offers Sanger sequencing services for a diverse range of clinical biospecimens, including:
K2 EDTA whole blood
Saliva
Buccal swabs
Stool
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.
Upholding rigorous standards to ensure the integrity and ethical conduct of clinical trials.
Our laboratory is ISO 15189 accredited for quality management and laboratory procedures.
Incorporating recommendations from leading genetic societies to optimise laboratory practices and ensure accurate and reliable testing.
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.
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.
