Very long chain acyl-CoA dehydrogenase deficiency Panel
Very long chain acyl-CoA dehydrogenase deficiency Panel
Prix habituel
€29.00 EUR
Prix habituel
Prix soldé
€29.00 EUR
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This product is only meant for customers who already purchased a MyGenome Test
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) panel is used to identify genetic variants associated with a rare inherited disorder that affects the body's ability to convert certain fats to energy, causing muscle weakness, low blood sugar, and other symptoms. This panel tests for genetic variants in the ACADVL gene, which encodes an enzyme that is involved in the breakdown of fatty acids.
This panel is designed for individuals with a family history of VLCAD deficiency or for those who have symptoms of the condition, such as low energy, muscle weakness, and recurrent episodes of low blood sugar. Early diagnosis through genetic testing can help inform treatment and management decisions, including dietary modifications and avoidance of fasting. It can also inform family planning decisions and provide reassurance for unaffected family members.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
List of main conditions:
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Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) panel is used to identify genetic variants associated with a rare inherited disorder that affects the body's ability to convert certain fats to energy, causing muscle weakness, low blood sugar, and other symptoms. This panel tests for genetic variants in the ACADVL gene, which encodes an enzyme that is involved in the breakdown of fatty acids.
This panel is designed for individuals with a family history of VLCAD deficiency or for those who have symptoms of the condition, such as low energy, muscle weakness, and recurrent episodes of low blood sugar. Early diagnosis through genetic testing can help inform treatment and management decisions, including dietary modifications and avoidance of fasting. It can also inform family planning decisions and provide reassurance for unaffected family members.
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
- 3 or more genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Very long chain acyl-CoA dehydrogenase deficiency
Ce produit est uniquement destiné aux clients qui ont déjà acheté un test MyGenome.