Neuronal Ceroid Lipofuscinosis Panel

This product is only meant for customers who already purchased a Dante Genome Test

Neuronal ceroid lipofuscinoses (NCL) are a group of rare disorders affecting the nervous system and characterised by lysosomal accumulation. Depending on the age of onset, we can differentiate them into infantile, juvenile and adult-onset NCL. Symptomatology is variable and depends on which gene is involved. The most common symptoms include dementia, epilepsy, loss of vision, retardation and loss of developmental abilities. Neuronal ceroid lipofuscinosis is a progressive disease for which there is currently no cure; treatment is based on symptom management and assistance for those affected.
This test may be appropriate for anyone with a personal or family history of Neuronal ceroid lipofuscinosis (NCL). Genetic testing can help in diagnosis and in providing information on risks for other 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
  • 13 genes analyzed
  • Investigates SNP and Indel mutations up to 150 bp

List of main conditions:
  • Ceroid lipofuscinosis, neuronal, 1
  • Ceroid lipofuscinosis, neuronal, 2
  • Ceroid lipofuscinosis, neuronal, 5
  • Ceroid lipofuscinosis, neuronal, 8

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