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Article Summary
Detecting genetic abnormalities is crucial for the early identification of specific genetic disorders and the implementation of proper medical management. In particular, Cri-du-chat syndrome (5p15.2), Prader-Willi syndrome (15q11.2), and Angelman syndrome (15q11.2) benefit significantly from early diagnosis through accurate testing. However, there are currently no laboratories in Japan that perform tests for these disorders, meaning testing must be conducted through overseas laboratories.
Current Situation and Response Strategies
At present, genetic testing for Cri-du-chat syndrome, Prader-Willi syndrome, and Angelman syndrome cannot be performed within Japan. The primary reasons include:
- No domestic laboratories currently offering testing for these three conditions
There is no facility within Japan equipped to detect these specific genetic disorders. - Limited domestic testing technology
In approximately 3,000 cases tested so far, none have resulted in a confirmed detection of these genetic abnormalities.
The difficulty arises because detecting these disorders—especially microdeletions—requires high technical precision and significant costs, making it a challenge for domestic labs to handle at this time.
Future Prospects
The introduction of testing technology from Illumina (California, USA) would make domestic testing feasible. Illumina’s advanced platform is highly effective in identifying microdeletions related to these disorders. While preparations for domestic implementation are underway, it will still take time before this becomes available in Japan.
At Hiro Clinic
Hiro Clinic not only provides domestic testing but also offers the P-Mama Plan, which sends samples to Illumina laboratories overseas for analysis. This makes it possible to reliably detect these disorders.
- Most cases involve larger deletions
Cri-du-chat syndrome (5p15.2), Prader-Willi syndrome (15q11.2), and Angelman syndrome (15q11.2) often involve larger genetic deletions, which makes detection comparatively easier.
Past research has shown that such deletions are almost always detectable. - Testing capabilities
With Illumina’s advanced technology, it is possible to detect not only larger deletions but also microdeletions and a wide range of genetic abnormalities.
Efforts are ongoing to establish the ability to detect these disorders domestically, and it is expected that domestic testing will eventually become available.
If you wish to undergo testing for these disorders, the P-Mama Plan is recommended. This approach ensures accuracy and reliability, providing you with the best testing options for peace of mind.
【References】
- Explanation of NICU (Neonatal Intensive Care Unit)｜SmallBaby
- About NICU/GCU | First Time in NICU
- Newborn Baby Admitted to NICU: Reasons, Features, and Costs Explained | WithHeart Insurance
- What is NICU for Premature Babies? Criteria, Hospitalization Period, and Cost Estimates Explained | Stem Cell Research Institute
Q&A
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QCan I take childcare leave even if my company does not have a formal policy?Yes. Childcare leave is a legally mandated benefit, so you can request it even if it is not explicitly mentioned in your company’s work regulations. Since it is a right protected by law, you should not give up simply because it is not listed in the rules. Submit your request directly to your manager.
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QCan contract employees also take childcare leave?Yes. As long as, at the time of your request, it is not clear that your employment will end before your child reaches 1 year and 6 months of age, you are eligible. However, note that some situations are exceptions, such as: Employment of less than one year Confirmed termination of employment within one year from the request date Working two or fewer days per week
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QWhat if my manager refuses to approve my childcare leave?Childcare leave is protected by law, and employees have the right to request it. Companies generally cannot refuse or restrict it. If your manager declines or hesitates, speak with your HR or labor management department. If the issue cannot be resolved internally, consult with the Prefectural Labor Bureau’s Employment Environment and Equal Opportunity Division for support.
