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It's All in the Genes, Different types, Example, Example, Example -…
It's All in the Genes
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Early Detection
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Blood sample
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- Drop blood on absorbant paper
- Send dried blood spots to lab
- Electrophoresis/ enzyme measurement/ immunoassays/ tandem mass spectroscopy
Look for:
Amino acids, enzymes, lipid and carbohydrate metabolites
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Types of galactosemia
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Type III
GALE gene, Chromosome 1p.
Classisc
Mutation in GALT gene, chromosome 9p.
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