Test Code: CSTBRP
Unverricht-Lundborg Disease (Repeat expansions in the CSTB gene)
Neurogenetics
Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterised by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time. Worldwide prevalence unknown; Finland prevalence 2-4/100,000. Found across ethnicities/ancestries, with population-dependent prevalence; highest in Tunisia, Algeria, Morocco, and Finland. Affected individuals have an unstable 12-nucleotide (dodecomer) repeat (CGCGGGGCGGGG)expansion. Alleles containing 2-3 motifs are considered benign, while alleles with 30-125 repeats are fully penetrant3 . Alleles in the range 12-17 repeats have been observed, however the individuals carrying them have not undergone clinical evaluation. Alleles in the range 4-11 and 18-29 repeats have not been reported to date.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
10 days days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
1 genes
CSTB
Methodology
Capillary Electrophoresis
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