Our mission
The aims of the National Taiwan University Hospital (NTUH) Biochemical Genetics Laboratory are to offer comprehensive laboratory diagnosis for inborn errors of metabolism, and to enhance the treatment and counseling for patients. High quality laboratory tests are available for patients not only from our hospital, but also from other hospitals in Taiwan and other countries in Asia.
Our Service
- Plasma amino acid analysis
- Urine GC/MS analysis
- Dried blood spot acylcarnitine/amino acid analysis
- Diagnosis for Lysosomal storage diseases
- Mitochondrial ETC enzyme assay
- Mitochondrial DNA mutation analysis
- Molecular diagnosis
Inborn errors related to the expanded newborn screening
The Biochemical Genetics Laboratory is closely associated with the Newborn Screening Center at the Department of Medical Genetics. The lab supports to confirm the diagnosis of newborns suspects who have inborn errors by expanding newborn screening of tandem mass analysis. Same diagnostic panels are also applied to children suspected to have inborn errors. The tests include dried blood spot acylcarnitine/amino acid analysis, plasma amino acid analysis, and urine organic acid analysis.
Laboratory diagnosis of lysosomal storage diseases
The lab performs a complete panel of tests for diagnosing lysosomal storage diseases. All diseases in the mucopolysaccharidosis can be diagnosed by enzyme assays. Diseases of lipidosis include Gaucher disease, Niemann-Pick disease type A/B/C, Fabry disease, Krabbe disease, and metachromatic leukodystrophy. Other diseases include Pompe disease, I-cell disease, and fucosidosis, etc. A urine quantitative glycosaminoglycan (GAG) test is used to make a quick inclusion of mucopolysaccharidoses. Chitotriosidase activity and CCL18 are used as biomarkers to confirm the diagnosis and follow up of treatment outcome. The assays for Pompe disease and Fabry disease support to confirm diagnosis for lysosomal storage diseases in newborn screening. The lab also supports the assays for several lysosomal storage diseases high risk screening projects.
Instruction
Mitochondrial depletion syndromes
We also focus in mitochondrial depletion syndromes. Thus, electrotransfer chain activity (ETC) from liver and muscle, mitochondrial copy number assay from liver and muscle, and mitochondrial DNA common deletions from liver and muscle were performed in our laboratory.
Molecular diagnosis
A selective panel of molecular tests is available for mitochondrial DNA mutations. Molecular diagnosis for limited panel of diseases involving the trinucleotide repeat is also available, including Huntington disease, Kennedy disease, and spinocerebellar atrophy type I/II/III/VI/XVII.