Genetic variants analyzed in this panel are closely related to or, potentially, the cause of the major laukodystrophy conditions
Leukodystrophy is a group of rare genetic disorders that affect the white matter of the brain and can cause developmental delay, movement disorders, and vision and hearing loss. Leukodystrophies are caused by mutations in genes involved in myelin formation and maintenance, 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 leukodystrophy or individuals with symptoms of the condition, such as developmental delay, movement disorders, and vision and hearing loss. 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 30 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Retinal Dystrophy With Leukodystrophy
- Metachromatic leukodystrophy
- Hypomyelinating leukodystrophy
This product is only meant for customers who already purchased a Dante Genome Test