1. What is Newborn Genetic Screening?
Newborn Genetic Screening analyses genes associated with a range of inherited conditions to identify genetic variants that may require further attention. It provides parents with additional information about their baby’s genetic health.
2. How many genes and conditions does the screening cover?
The screening analyses approximately 130 genes and covers 120+ potential conditions, including selected metabolic disorders, hereditary hearing loss, haemophilia and related genetic conditions.
The actual genes and conditions covered are subject to the laboratory’s latest testing panel.
3. Can my baby still undergo screening if there are no symptoms?
Yes. Some genetic conditions may not cause obvious symptoms at birth or during early infancy.
Parents may consider genetic screening based on family history, their baby’s health condition and their individual needs.
4. Can genetic screening confirm a diagnosis?
Genetic screening results should not be considered a definitive diagnosis on their own.
If a disease-related genetic variant is identified, further assessment may be required based on the condition involved, its inheritance pattern and the baby’s clinical circumstances. Additional tests may also be recommended to confirm certain findings.
5. If no abnormal findings are detected, does this mean my baby definitely does not have a genetic condition?
No.
All genetic screening tests have defined testing scopes and technical limitations. A negative result means that no relevant findings were identified within the scope of this screening, but it cannot completely rule out all genetic conditions.
6. How long does it take to receive the report?
The report is generally available within approximately 1–2 weeks.
The actual turnaround time may vary depending on the sample condition and laboratory arrangements.
7. Can genetic screening replace routine newborn screening provided by hospitals?
No.
Genetic screening and routine newborn screening differ in their testing methods, scope and clinical applications, and should not be considered substitutes for one another.
Babies should still undergo appropriate routine newborn examinations and screening as recommended by healthcare professionals.
8. What happens if the report identifies a result that requires further attention?
You may first consult a healthcare professional to understand the findings. Depending on the genetic variant identified, the condition involved and your baby’s health status, further laboratory testing, clinical assessment or specialist follow-up may be recommended.