Overview
At BION Genetic Laboratory, we offer Enzymes and Biomarkers Tests for New-born as complementary to genetic testing, as A genetic test alone may not be able to provide the information needed for a final diagnosis.
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Enzyme assays use for detection of these disorders
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Oligosaccharidosis and Sphingolipidoses
- Wolman disease (Acid lipase)
- Pompe disease (Alpha-glucosidase)
- Fucosidosis (Alpha-fucosidase)
- Fabry disease (Alpha-galactosidase)
- Alpha-mannosidosis (Alpha-mannosidase)
- Schindler/Kanzaki disease (Alpha-N-acetylgalactosaminidase)
- Gaucher disease (Beta-glucocerebrosidase)
- Tay-Sachs disease (Beta-hexosaminidase)
- Beta-mannosidosis (Beta-mannosidase)
- Sandhoff disease (Total-hexosaminidase)
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Neuronal Ceroid Lipofuscinosis
- Santavuori-Haltia disease (Palmitoyl-protein- thioesterase)
- Jansky-Bielschowsky disease (Tripeptidyl-peptidase)
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Mucopolysaccharidosis
- Hurler syndrome (MPS I) (Alpha-L-iduronidase)
- Hunter syndrome (MPS II) (Iduronate-2-sulfatase)
- Sanfilippo syndrome B (MPS III B) (Alpha-N-acetylglucosaminidase)
- Morquio syndrome A (MPS IV A) (N-acetylgalactosamine-6-sulfate-sulfatase)
- Morquio syndrome B (MPS IV B) (Beta-galactosidase)
- Maroteaux-Lamy syndrome (MPS VI) (Arylsulfatase B)
- Sly syndrome (MPS VII) (Beta-glucuronidase)
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Biomarkers assays use for detection of these disorders
- Gaucher disease (Glucosylsphingosine (lyso-Gb1))
- Fabry disease (Lyso-ceramide trihexoside (lyso-Gb3))
- Niemann-Pick disease type A/B/C (Lyso-SM-509)
- Aromatic L-amino acid decarboxylase (AADC) deficiency (3-O-methyldopa (3-OMD))
- Hereditary angioedema (HAE) (Complement C4-alpha peptide and Complement C1-INH pepTide