Leigh Syndrome Panel
Leigh 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
Leigh syndrome is a serious neurological disorder that usually manifests itself in the first year of life. This condition is characterized by a progressive loss of mental and motor skills (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure.
Leigh syndrome is a rare genetic disorder that affects the central nervous system and can cause developmental delay, movement disorders, and respiratory failure. Leigh syndrome is caused by mutations in genes involved in mitochondrial function and energy production, 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 Leigh syndrome or individuals with symptoms of the condition, such as muscle weakness, poor coordination, and breathing problems. 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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Leigh syndrome is a serious neurological disorder that usually manifests itself in the first year of life. This condition is characterized by a progressive loss of mental and motor skills (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure.
Leigh syndrome is a rare genetic disorder that affects the central nervous system and can cause developmental delay, movement disorders, and respiratory failure. Leigh syndrome is caused by mutations in genes involved in mitochondrial function and energy production, 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 Leigh syndrome or individuals with symptoms of the condition, such as muscle weakness, poor coordination, and breathing problems. 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
- More than 35 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Leigh Syndrome
Ce produit est uniquement destiné aux clients qui ont déjà acheté un test MyGenome.