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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
CSTB 81189 81189,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9095CSTB81189 81189,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

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


Genetic Counselors


  • Eric Bend, PhD

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).


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.


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


Name Inheritance OMIM ID
Unverricht-Lundborg Syndrome AR 254800


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


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.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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