Current pre-pregnancy checks are mostly focused on infertility, with too much emphasis on whether conception is possible, while almost forgetting the biggest purpose of pre-pregnancy screening: whether you can have a healthy child.
When planning for a baby, hereditary genetic disease risk may be even more important.
Every parent hopes their child will grow up healthy, but if you are planning a family, are you concerned that you may carry recessive hereditary disease genes that could place the next generation at risk of serious and long-term health problems? Recessive genetic diseases are by no means irrelevant. According to research published by the University of Hong Kong in 2018, 1 in every 67 people in Hong Kong lives with a rare disease, accounting for about 1.5% of the population. Therefore, hereditary disease gene testing before family planning can offer better protection for the health of the next generation.
Common recessive genetic conditions in Hong Kong include G6PD deficiency, spinal muscular atrophy (SMA), fragile X syndrome, cystic fibrosis, Pompe disease, tuberous sclerosis, spinocerebellar ataxia, and more. Rare diseases can pose severe health threats. For example, spinal muscular atrophy can cause weakness in the limbs and neck, affecting daily life and even survival. Although rare diseases have a major impact on patients and caregivers, Hong Kong has long been criticized for limited policy coverage regarding access to rare-disease medicines. The cost of such medication is high and often unaffordable for average-income families.
Modern technology can now accurately identify hereditary disease risk before pregnancy. For example, G6PD deficiency is usually only discovered after a baby is born, but it can now be identified before pregnancy.
6 mL blood sample | or saliva collection (clinic only) | US laboratory testing | Report in about 3 to 4 weeks
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6 mL blood sample | or saliva collection (clinic only) | US laboratory testing | Report in about 3 to 4 weeks
Saliva test | Fast for 30 minutes | European laboratory testing | Report in about 3 to 4 weeks
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6 mL blood sample | or saliva collection (clinic only) | US laboratory | about 3 to 4 weeks for report
Alpha and beta thalassemia / Fragile X syndrome / Developmental delay and autism / Deafness / Spinal muscular atrophy / Cystic fibrosis / Pompe disease
It helps you understand the risk of inherited genes that may cause certain diseases in your baby.
If neither you nor your partner is a carrier, your child is very unlikely to inherit the disease.
If one partner is a carrier but the other is not, your baby is very unlikely to inherit the disease.
If both you and your partner are carriers, your child has a 25% chance of inheriting the disease.
Although hereditary genetic testing can help you understand your health history and your chances of a healthy pregnancy and baby, it is not absolute.
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5 mL blood sample | US laboratory | about 2 to 4 weeks for report | available at Mong Kok or Wan Chai centres
Breast and gynecology (breast, ovary, uterus)
Gastrointestinal (colon, stomach, pancreas)
Endocrine (thyroid, parathyroid, pituitary)
Genitourinary (kidney/urinary tract, prostate)
Skin (melanoma, basal cell carcinoma)
Brain / nervous system
A positive result = a higher lifetime risk of cancer
Genetic testing can support treatment decisions
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5 mL blood sample | about 2 to 4 weeks for report | available at Mong Kok or Wan Chai centres
According to Hospital Authority Cancer Registry data, Hong Kong recorded over 35,000 new cancer cases in 2019, with an average of 96 confirmed cases per day.
BRCA genes are associated with hereditary breast and ovarian cancer risk. BRCA1/2 mutations substantially increase the risk of breast and ovarian cancer.
What can BRCA testing tell you?
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Current pre-pregnancy checkups often focus on fertility only. The bigger question is whether a couple may carry hereditary genes that could affect the child.
Planning for hereditary disease risk can be even more important.
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Saliva test | No food for 30 minutes | European laboratory | about 3 to 4 weeks for report
Rodinia is a screening test for gene variants associated with infertility. This test is suitable for...
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3 mL blood sample | US laboratory | about 3 to 4 weeks for report | available at Mong Kok or Wan Chai centres
This panel analyzes genes associated with developmental delay, intellectual disability, autism, and related conditions. Combined with clinical findings, it can help doctors confirm diagnosis, assess prognosis and progression, support early symptom detection, and provide information for family planning and genetic counseling.
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10 mL blood sample| about 6 to 8 weeks for report| available at Mong Kok or Wan Chai centres
Whole genome sequencing is an advanced genetic testing technology that reads the complete genome and analyzes related hereditary information. Mutation data can be used to evaluate disease-related genes and support personalized medical planning.
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10 mL blood sample| about 4 weeks for report| available at Mong Kok or Wan Chai centres| includes nutritionist consultation
Telomeres are an objective indicator of biological age. They play a critical role in cellular aging and are considered one of the key factors related to human longevity. Telomere research has also received Nobel-level recognition in health and longevity science.
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