← Genetic screening overview
OPTIONAL CHECKUP ADD-ON

Genetic health screening

Whole exome sequencing · Health-check edition

Analyse the exonic regions of more than 20,000 genes to explore selected inherited disease risks, carrier findings and medication-response differences.

Findings can help clinicians tailor when and how often to screen, arrange further assessment and consider early intervention.

Identify selected inherited risks earlier to inform screening and intervention.

English reportInterpretation included

What does the test read?

A gene test looks at part of your biological instructions. It complements the measurements and images collected during a routine checkup.

01

DNA is an instruction book

Genes contain instructions that help your body make proteins and carry out essential functions.

02

Read the coding sections

Whole exome sequencing reads the exons: the parts of genes that mainly carry protein-making instructions.

03

Put the findings in context

Results are interpreted alongside your health history, family history and other checkup findings.

THREE EXAMPLES · PRACTICAL NEXT STEPS

Identify inherited risks earlier.
Inform screening and intervention.

Not all variants are harmful. These simplified examples concern disease-causing variants; clinical decisions require professional interpretation.

01 · LDLR

Cholesterol risk: act earlier

Some inherited LDLR variants affect the clearance of LDL cholesterol. Recognising the risk can support earlier lipid assessment and management.

01

An inherited variant

A disease-causing LDLR variant can change the instructions for making LDL receptors.

02

Reduced LDL clearance

Some variants reduce the number or function of receptors, especially on liver cells.

03

Higher cholesterol risk

LDL cholesterol may remain elevated, increasing cardiovascular risk over time.

04 · ACTION

Act: manage lipids earlier

Review lipid results with a clinician and discuss lifestyle measures, appropriate medicines and follow-up.

Early management aims to reduce cardiovascular risk. This is an illustration of a mechanism, not an individual diagnosis. Medical reference ↗

02 · MLH1 · MSH2 · MSH6 · PMS2

Lynch syndrome: closer monitoring

Inherited changes in mismatch-repair genes can increase colorectal cancer risk. Knowing this can change when colonoscopy begins and how often it is performed.

01

An inherited repair-gene variant

A disease-causing variant in a gene such as MLH1 or MSH2 can predispose a person to Lynch syndrome.

02

DNA errors may accumulate

After further changes in a cell, mismatch repair may fail and DNA copying errors can accumulate.

03

Increased colorectal risk

Some precancerous bowel lesions can progress more quickly. The polyp shown is one possible pathway, not every case.

04 · ACTION

Act: monitor and treat early

A specialist can arrange earlier, more frequent colonoscopy and removal of appropriate precancerous polyps.

Colonoscopy surveillance can reduce colorectal cancer incidence and mortality in Lynch syndrome, but does not eliminate all risk. Timing is personalised. Medical reference ↗

03 · BRCA1 · BRCA2

BRCA: a more targeted screening plan

Certain inherited BRCA1 or BRCA2 variants increase breast cancer risk. Recognising the risk can guide earlier, enhanced breast screening.

01

An inherited BRCA variant

A disease-causing BRCA1 or BRCA2 variant affects a gene involved in repairing damaged DNA.

02

Repair protection may weaken

If further changes disable the remaining working copy in a cell, DNA repair can become impaired.

03

Increased breast cancer risk

Damage may accumulate and increase the chance of abnormal cell growth. Increased risk is not a cancer diagnosis.

04 · ACTION

Act: tailor breast screening

Discuss earlier breast MRI and age-appropriate mammography, with specialist assessment of risk-reducing options.

This example focuses on breast cancer. BRCA variants can also affect ovarian cancer risk; routine ovarian screening is not reliably effective. Medical reference ↗

What can it help you understand?

The report brings together several types of genetic information. What a finding means depends on the gene, the variant and your individual circumstances.

Inherited conditions & carrier status

Find genetic clues linked to selected inherited conditions and understand relevant carrier findings.

Hereditary cancer risk

Explore inherited susceptibility to selected cancers. This does not determine whether a tumour is currently present.

Cardiovascular & metabolic insights

Identify selected genetic findings that may inform further assessment of cardiovascular or metabolic health.

Medication-response differences

Provide genetic information that a clinician may use alongside other factors when considering certain medicines.

Risk information is not a diagnosis. Professional interpretation is needed, and medicines should not be started, stopped or changed on the basis of this report alone.

From sample to understanding

Approximately 15 business days after the laboratory receives your sample and it passes quality checks. English reporting and interpretation are included in the US$2,380 add-on price.

01

Discuss suitability

Review your health and family history, and confirm the scope of testing.

02

Provide a sample

Provide a blood or saliva sample as arranged by the hospital.

03

Laboratory analysis

Sequencing and analysis begin after sample acceptance and quality checks.

04

Report & interpretation

Receive your English report and the interpretation included in this add-on.

A few practical questions

Does this replace a regular checkup?

No. Routine checkups assess your current health; genetic testing adds information about inherited health background. They serve different, complementary purposes.

Who might wish to discuss this test?

People interested in their inherited health background, particularly those with relevant personal or family history.

Is the result available with my regular checkup report?

It has a separate laboratory timeline. Approximately 15 business days after the laboratory receives your sample and it passes quality checks.

More insight.
Better-informed conversations.

An optional addition to your checkup. English report and interpretation included.

Illustrations are simplified educational diagrams, not to scale. Reference information:
MedlinePlus · LDLRFamilial hypercholesterolemiaHow gene variants ariseWhole exome sequencing