Monogenic Screening (170+ conditions)

【Monogenic Screening (170+ conditions) (HG-PMS-100+)】

Screening for  173 inherited genetic disorders across 160+ genes

‼️High accuracy rate of over 99%‼️

📌Price: HK$8,800 per person

❌ No fasting required

📃 Report turnaround: Approximately 4-5 weeks

👨🏼‍⚕️ Result explanation: Results will be explained by GP or medical staff

🔄Process: Registration ➝ Medical staff explain the details of this test➝ sign consent form ➝ Blood draw➝ around 30-45 mins

✅Suitable for pregnant women, couples planning pregnancy, or prospective parents.
✅Recommended for individuals or couples with a family history of genetic disorders
✅Ideal for couples preparing for assisted reproductive treatments (ART / IVF)
✅Recommended for consanguineous couples (close-relative marriage)
✅Only a blood sample is required (Pregnant women only require 5 mL of peripheral blood)
✅Report turnaround time: approximately 4–5 weeks
✅High accuracy rate of over 99%
✅Utilizes Next-Generation Sequencing (NGS) combined withconventional validation methods

 What are Monogenic Genetic Disorders?

Monogenic genetic disorders are inherited conditions caused by mutations in a single gene. To date, more than 10,000 types of monogenic disorders have been identified worldwide. Many of these conditions may lead to disability, severe health complications, or even death.

Individuals carrying recessive genetic mutations often show no symptoms and routine health examinations usually cannot detect any abnormalities. As a result, the condition may only be discovered after a child is born with the disease.

Studies indicate that an average person carries approximately 2.8 recessive disease-causing genes. Although each individual genetic disorder may have a relatively low incidence, the overall combined risk of inherited genetic diseases exceeds 1%, which is higher than the incidence of Down syndrome (approximately 1 in 700 in Hong Kong).

Because carriers of recessive genetic conditions usually have no symptoms, if both parents carry the same recessive genetic mutation, there is a 75% chance that the mutation will be passed on to their child. If both partners are carriers of the same genetic disorder, there is a 25% risk that their child may develop the disease.

Through early genetic carrier screening, couples planning a pregnancy or expectant parents can identify potential genetic risks in advance, allowing them to make informed.

Why Choose Health Gene Monogenic Disease Screening?

The Health Gene Monogenic Disease Screening (170+ conditions) can detect 173 inherited disorders caused by more than 11,000 genetic mutations. Compared with testing for a single genetic condition, the Health Gene Monogenic Disease Screening (170+ conditions) provides a more comprehensive and cost-effective approach, enabling broader detection of potential inherited genetic risks.

Why Early Testing is Crucially Important?

For individuals with a family history of genetic diseases:

1. Risk Assessment and Management:
   For individuals with a family history of genetic diseases, undergoing “Monogenic Screening” helps in early detection of genetic disorders and assessing the risk of developing certain hereditary conditions. This enables them to make lifestyle adjustments as needed or undergo preventive screening.
2. Family Planning:
   For individuals planning to expand their families, understanding their genetic risk can influence their reproductive decisions and prompt them to consider other options, such as surrogacy or genetic assisted technologies.

For couples planning to have a baby:

1. Genetic Risk Assistance:
   For couples planning pregnancy, early testing can screen for any potential genetic disease risks, enabling them to make informed choices.
2. Reproductive Decision Support:
   The test results can provide couples with information about pregnancy risks and options, allowing them to jointly decide on the most suitable reproductive plan, thereby reducing the risk of potential hereditary diseases in the future.

Booking Procedure

For more details on the program, please click on the program.