The most advanced and practical broad-spectrum metabolic screening laboratory for IEMs

As a government certified clinical testing institution, MILS focuses on rapid and broad-spectrum detection services for IEMs, exploration of disease diagnostic biomarkers, and research and development of testing methods. Since 1997, it has provided rapid and accurate clinical diagnostic basis for IEM patients in Southeast Asian countries. Through repeated case verification with clinical doctors and researchers, it has established a unique IEM metabolic screening system that is most suitable for clinical diagnosis needs, and has received praise from clinical doctors and researchers engaged in IEM diagnosis, treatment, and research in Japan and even Southeast Asian countries. Especially in recent years, with the popularization of newborn screening for IEMs, the expansion of screening target diseases, and the deepening of clinical application of genetic testing technology, the early diagnosis rate of IEMs has been significantly improved. However, the clinical diagnosis of difficult to diagnose diseases that cannot be matched by newborn screening and genetic testing results that cannot indicate clear pathogenic mutations has become an important challenge in the clinical diagnosis and treatment of genetic metabolic diseases today.

MILS laboratory has created a broad-spectrum metabolic analysis method and a series of genetic testing results to confirm and analyze metabolic indicators for VUS patients, in order to solve the clinical diagnostic dilemma of diseases that cannot be screened by newborn screening and VUS mutations in genetic testing results. The detection target diseases include organic acidemia, amino acidemia, and fatty acid metabolism disorders, as well as detection and analysis of purine, pyrimidine, glucose metabolism disorders, neurotransmitter diseases, immune metabolism disorders, and steroid diseases. This testing service expands clinical diagnostic methods and can report results within 3-72 hours after receiving samples in the laboratory. It is fast and accurate, and has been well received by clinical doctors.

The special recommended inspection items are as follows：

1. IEM routine screening: 160 target diseases, results can be provided within 3 hours at the earliest
2. IEM broad-spectrum screening: 170 target diseases, results reported within 48 hours of routine testing
3. Epilepsy related IEM screening: screening for neurometabolic diseases including adenylosuccinate lyase (ADSL) deficiency
4. Purine and pyrimidine metabolic disorder screening: detect urine purine and pyrimidine metabolite

5. Urine amino acid analysis: for amino aciduria differential diagnosis
6. Renal stone analysis: for renal stone disease differential diagnosis
7. Leigh disease IEM screening: confirm the presence of Leigh disease caused by HIBCH and SCEH1 mutations through analysis of special components
8. Creatine Deficiency Syndrome test: Confirmation of AGAT, GAMT, and SLC6A8 Deficiency through Urine and Blood Analysis
9. Molybdenum factor or SUOX deficiency testing: confirmed by urine urate, xanthine, hypoxanthine, S-sulfocysteine and blood total homocysteine, cysteine level
10. Aromatic L-Amino Acid Decarboxylase (AADC) enzyme activity assay: dry blood spot sample
11. Hypoxanthine-guanine Phosphoribosyltransferase (HPRT) enzyme activity assay: dry blood spot sample
12. Biotinidase enzyme activity assay: dry blood spot sample
13. Mitochondrial respiratory chain enzyme activity assay: tissue or cell
14. Cell Oxygen consumption rate (OCR) test
15. Gene VUS mutation metabolic confirm test (limited to IEM associated genes)

The above testing items are all Laboratory Developed Tests (LDTs), which have been confirmed through rigorous experimental methods and validated with samples from confirmed patients, and have rigorous Quality Control. Their test results have also been cited in multiple articles (1,2,3,4,5) and are loved by IEM professional doctors. We are willing to provide this testing service to more doctors and patients, and welcome doctors engaged in the diagnosis and treatment of genetic metabolic diseases to actively utilize it.

Finally, MILS has built a body fluid metabolomics analysis method based on mass spectrometry analysis technology through long-term continuous innovation, accumulating basic data on IEM in the Asia Pacific region and cultivating a mature professional technical team for mass spectrometry and IEM analysis interpretation. We are willing to further strengthen cooperation with genomics and clinical omics research teams, create a higher-level international metabolic disease analysis and detection platform, and provide comprehensive detection services for the diagnosis and treatment monitoring of IEM patients worldwide, as well as the development of therapeutic drugs. Interested parties are welcome to contact us.
Reference
1. Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene. Int J Mol Sci. 2016 Jan 12;17(1):86. doi: 10.3390/ijms17010086.
2. Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients with HIBCH Mutations Presenting with Leigh/Leigh-Like Syndrome. Front Pharmacol. 2021 Mar 8:12:605803. doi: 10.3389/fphar.2021.605803. eCollection 2021.
3. Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family. Front Pediatr. 2022 Feb 11:9:816265. doi: 10.3389/fped.2021.816265. eCollection 2021.
4. COASY variant as a new genetic cause of riboflavin-responsive lipid storage myopathy. Cell Discov. 2024 Feb 27;10(1):25. doi: 10.1038/s41421-023-00641-0.
5. Low excretor glutaric acidemia type 1 with transient lesions in the basal ganglia. Brain & Development 47 (2025) 104380 https://doi.org/10.1016/j.braindev.2025.104380.

Please contact us if you have any requirements
URL: http://mils-int.jp
email: mils@mils-int.jp
Dr. Chunhua Zhang, MD. PhD
Director of MILS International