WEST Syndrome Panel
WEST Syndrome Panel
Prix habituel
€29.00 EUR
Prix habituel
Prix soldé
€29.00 EUR
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par
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This product is only meant for customers who already purchased a MyGenome Test
West syndrome is defined by the presence of three features: Infantile spasms, a specific type of seizure that begins in the first year of life. Developmental regression or loss of developmental milestones. A highly irregular pattern of brain waves, known as a hypsarrhythmia, on an electroencephalogram (EEG)
WEST syndrome is a rare epilepsy syndrome that typically affects infants. WEST syndrome is caused by mutations in genes involved in the development and function of the brain, and this panel tests for genetic variants that are known to affect these processes.
This panel is designed for individuals with a family history of WEST syndrome or individuals with symptoms of the condition, such as infantile spasms, developmental delay, and cognitive impairment. Genetic testing can confirm a diagnosis, provide information on disease severity and progression, and inform treatment and management decisions. Testing 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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West syndrome is defined by the presence of three features: Infantile spasms, a specific type of seizure that begins in the first year of life. Developmental regression or loss of developmental milestones. A highly irregular pattern of brain waves, known as a hypsarrhythmia, on an electroencephalogram (EEG)
WEST syndrome is a rare epilepsy syndrome that typically affects infants. WEST syndrome is caused by mutations in genes involved in the development and function of the brain, and this panel tests for genetic variants that are known to affect these processes.
This panel is designed for individuals with a family history of WEST syndrome or individuals with symptoms of the condition, such as infantile spasms, developmental delay, and cognitive impairment. Genetic testing can confirm a diagnosis, provide information on disease severity and progression, and inform treatment and management decisions. Testing 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
- 1 gene analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- WEST Syndrome
Ce produit est uniquement destiné aux clients qui ont déjà acheté un test MyGenome.