Epilepsy: Unverricht-Lundborg Disease via the CSTB Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
9095 CSTB 81189 81189,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9095CSTB81189 81189, 81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Unverricht-Lundborg disease, also known as progressive myoclonic epilepsy 1A, and Myoclonic epilepsy of Unverricht and Lundborg, is a rare hereditary neurodegenerative disorder characterized by onset of neurodegeneration between 6 and 13 years of age and generalized myoclonic seizures. Onset peaks at around age 12-13. Other neurological manifestations such as ataxia are rare. Cognitive impairment varies from absent to moderate. Treatment is available (Crespel et al. 2016. PubMed ID: 27582036).

Genetics

Unverricht-Lundborg disease is inherited in an autosomal recessive manner and is caused by pathogenic variants in CSTB, which encodes cystatin B, a member of the superfamily of cysteine protease inhibitors.

CSTB pathogenic variants include missense, nonsense, splicing, small frameshift deletions and small indels (Human Gene Mutation Database). The most common pathogenic variant is an unstable expansion of a 12-nucleotide (dodecamer) repeat 5'-CCC-CGC-CCC-GCG-3' in the promoter region. This expansion accounts for approximately 90% of the patients worldwide and 99% of the cases in Finland, most of them in a homozygous state (Hyppönen et al. 2015. PubMed ID: 25770194; Crespel et al. 2016. PubMed ID: 27582036). Large deletions and duplications involving CSTB have not been reported.

Clinical Sensitivity - Sequencing with CNV PG-Select

Sequencing will not identify the most common dodecamer repeat expansion in the CSTB gene (90% of cases). Therefore, the sensitivity of this test is expected to be low (10% of cases).

To date, no large deletions/duplications have been reported involving CSTB.

Testing Strategy

This test provides full coverage of all coding exons of the CSTB gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

This test is recommended for cases suspected to have Unverricht-Lundborg disease (Crespel et al. 2016. PubMed ID: 27582036). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CSTB.

Gene

Official Gene Symbol OMIM ID
CSTB 601145
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Unverricht-Lundborg Syndrome AR 254800

Citations

  • Crespel et al. 2016. PubMed ID: 27582036
  • Human Gene Mutation Database (Bio-base).
  • Hyppönen et al. 2015. PubMed ID: 25770194

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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