Decoding complexity: the role of whole exome and genome sequencing in genetic diagnosis

Technology at SuperDNA

The SuperDNA differences

At SuperDNA, we create, follow, and are informed by cutting-edge science. Through an ever-expanding network of collaborations with academics, clinicians, and patient advocacy groups, our commitment to genetic disease detection, discovery, and diagnosis is based on sound science and is focused on enhancing patient care. Our ability to translate insights drawn from cutting-edge research into more diagnostic opportunities responsibly. Today, our discoveries fuel the industry’s understanding of genetic disease diagnosis and pave the way for better patient care, treatments, and outcomes tomorrow.

Types of technology

Whole Genome Sequencing (WGS)

Unlike whole exome sequencing (WES) which focuses on coding regions, WGS reads the entirety of your DNA code. This means WGS can identify variations (mutations) anywhere in your DNA, not just in coding regions. That is why WGS is most advanced genetic technology that can find answers that more targeted genetic tests miss and are especially useful when the timing is critical, and test results may direct or alter medical management.

Products: SuperDNA Ultimate DNA Test

Whole Exome Sequencing (WES)

It delves into your genetic code and reads the “exome” that is a specific section of this library containing the most critical parts – the coding regions, like the recipes used to create proteins. It can identify variations (mutations) in your genes that might be linked to specific diseases or health conditions.

Products: SuperDNA Complete DNA Test, Family Planning, Newborn Metabolic Screening

Genotyping

It examines large number of specific locations on your DNA called Single Nucleotide Polymorphisms (SNPs) simultaneously to provide information about your wellness, potential common illness risks, and other traits.

Products: SuperDNA Essential DNA Test, SuperKids Talent & Personality Test, SuperDNA Health & Allergy Test, Skin DNA Health Test, Pharmacogenomics Test

Multi-Cancer Early Detection (MCED) using Liquid Biopsy

A test aims to detect the possibility of several different types of cancer at an early stage, potentially before symptoms even appear. Unlike traditional biopsies that involve taking cancerous tissue samples, a liquid biopsy is a minimally invasive blood test. It analyzes circulating tumor DNA (ctDNA) shed by cancer cells into the bloodstream.

Products: CancerDetect™

DNA Methylation

A DNA methylation test is a specialized analysis that looks at the methylation patterns on your DNA. Imagine tiny tags sticking to your DNA instruction manual (your genome). These tags, called methyl groups, don’t change the actual letters in the instructions, but they are known to affect how easily those instructions can be read, due to the changes of lifestyle and environmental factors.

Products: Epigenetics Test

Our Ever-Growing Genetic Database

At SuperDNA, every test we run makes the next one smarter. Our internal database—built on over one million genetic data points—continues to grow as global research expands.

We constantly update our insights by comparing your DNA against well-established population studies like the UK Biobank, Singapore Cohort Project, 1000 Genomes Project, and many more. This ensures that we can determine whether a genetic variant is truly meaningful or just background noise.

More data = more answers.

Whether it’s a newly discovered variant or a rare combination, our advanced, proprietary variant interpretation engine helps us deliver results that are:

  • More accurate
  • More comprehensive
  • More personalized

This is how we provide definitive risk insights, even in complex or previously unclear cases—giving you and your healthcare provider the confidence to take the right action.

Accuracy & Reliability You Can Trust

At SuperDNA, precision isn’t just a promise — it’s built into our DNA.

We use Polygenic Risk Scores (PRS) to provide a more accurate picture of your inherited risk for complex diseases like diabetes, heart disease, and certain cancers. Unlike traditional single-gene tests, PRS combines thousands of genetic markers into a single score, giving you a clearer understanding of your personal health risk.

Think of PRS as your genetic forecast — personalized, data-driven, and highly predictive.

Our accuracy doesn’t stop there. We go beyond standard testing with:

Machine learning + expert oversight to interpret your results with both speed and clinical accuracy
Advanced pipelines for secondary and tertiary analysis that detect even subtle genetic changes
Internal knowledge bases + external databases for up-to-date, evidence-backed reporting
Data mining of past and present test results for continuous improvement and deeper insight

Certified Labs & Data Privacy

At SuperDNA, we take your health and data security seriously. All genetic tests are processed in our ISO 15189, ISO 17025, and CAP-compliant laboratory, ensuring the highest standards of clinical accuracy, analytical validity, and laboratory excellence. We use state-of-the-art sequencing technology and follow strict quality control at every stage of your DNA analysis.

Our lab is also proud to be one of the few in Malaysia participating in the EMQN’s External Quality Assessment (EQA) scheme for molecular genetic sequencing — a globally recognized program that ensures international benchmarking and consistent testing performance.

When it comes to your personal information, privacy is non-negotiable. We comply with international data protection laws, including the EU’s GDPR and Malaysia’s PDPA (Personal Data Protection Act). Your DNA data is handled with the utmost confidentiality, stored securely, and never shared without your explicit consent.

You remain in full control of your data:

  • Choose whether to store or delete your genetic information after testing
  • Decide if you’d like to receive updates based on future scientific discoveries
  • Receive your results in a sealed, printed report — no online access required
Your DNA is personal. We treat it that way.

Not all genetic tests are created equal!

Different tests use different technologies to get the most accurate and reliable results for your specific needs. At SuperDNA, we offer a variety of options to ensure you get the right test for you.
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