Congenital Sucrase-Isomaltase Deficiency Panel
€29.00
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This product is only meant for customers who already purchased a Dante Genome Test
Congenital sucrase-isomaltase deficiency is caused by a congenital enzyme deficiency that prevents the correct metabolism of two disaccharides, sucrose and maltose. This condition, which manifests itself with the introduction of starch-containing foods at weaning, causes digestive problems, diarrhea, abdominal pain and growth failure linked to intestinal malabsorption. The only gene involved is the one that codes for the sucrase-isomerase enzyme.
This panel is indicated for children who, during the weaning phase, present signs and symptoms compatible with this enzyme deficiency, which presents with osmotic-fermatative diarrhea associated with vomiting, flatulence and abdominal pain.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
List of main conditions:
Congenital sucrase-isomaltase deficiency is caused by a congenital enzyme deficiency that prevents the correct metabolism of two disaccharides, sucrose and maltose. This condition, which manifests itself with the introduction of starch-containing foods at weaning, causes digestive problems, diarrhea, abdominal pain and growth failure linked to intestinal malabsorption. The only gene involved is the one that codes for the sucrase-isomerase enzyme.
This panel is indicated for children who, during the weaning phase, present signs and symptoms compatible with this enzyme deficiency, which presents with osmotic-fermatative diarrhea associated with vomiting, flatulence and abdominal pain.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
- Available in less than 24 hours
- Based on Whole Genome Sequencing
- 1 gene analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Sucrase-isomaltase deficiency, congenital
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