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Progressive Myoclonic Epilepsy, With or Without Renal Failure, via the SCARB2 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
SCARB2 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7257SCARB281479 81479,81479 $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

The progressive myoclonic epilepsies (PMEs) are a heterogeneous group of seizure disorders characterized by myoclonus and often neurodegeneration. PME4, previously called action myoclonus-renal failure syndrome (AMRF), is a progressive epilepsy disorder in which cognition is preserved (Badhwar et al. Brain 127(Pt 10):2173-2182, 2004). PME4 usually presents in the second decade of life as tremors and myoclonic jerks which progress into clonic-tonic seizures. Seizures are sensitive to light and become intractable to anti-epileptic drugs as the disease progresses. Eventually, patients become completely bedridden due to severe action myoclonus.

In a subset of PME4 cases, seizures are accompanied by renal failure, often first detected as proteinuria. The clinical phenotype of PME4 with renal failure is similar to that of Gaucher disease type III. These two disorders can be distinguished by: 1) the absence of Gaucher cells in PME4 patients and 2) elevated Beta-glucosidase (βGC) activity in the serum of PME4 patients (Reczek et al. Cell 131(4):770-783,2007).

PME4 cases without renal failure clinically resemble Unverricht-Lundborg disease (ULD). ULD is another progressive myoclonic epilepsy with preserved intellect. The main distinction between PME4 and ULD is the average age of onset, 20 years and 10 years, respectively (Dibbens et al. Ann Neurol 66(4):532-536, 2009).


PME4 is caused by mutations in the SCARB2 gene. PME4 is largely inherited in an autosomal recessive manner, though there are reports of heterozygous carriers showing mild PME4 phenotypes (Hopfner et al. BMC Neur 11:134-141, 2011). Approximately 20 PME4-associated mutations in SCARB2 have been identified and are predicted to result in loss of SCARB2 function.

SCARB2 encodes lysosomal integral membrane protein 2 (LIMP-2). LIMP-2 acts as a sorting receptor and is required for proper localization of the enzyme βGC to the lysosome. In cells lacking LIMP-2, βGC is missorted and is secreted from the cell (Balreira et al. Hu Mol Genet 17(14):2238-2243, 2008). βGC is encoded by the GBA gene, which when mutated results in Gaucher disease (GD). Symptoms of GD type III resemble those of some PME4 cases and it is suggested that these two disorders might share an etiology. SCARB2 has also been implicated as a modifier of GD (Velayati et al. Hum Mutat 31(11):1232-1238, 2011).

Clinical Sensitivity - Sequencing with CNV PG-Select

PME4 is defined by the presence of a SCARB2 mutation. A study of patients with ULD-like disease found SCARB2 mutations in 5 of 41 (12%) patients (Dibbens et al. Ann Neurol 66(4):532-536, 2009). Another study identified SCARB2 as a modifier of GD in 1 of 15 (6%) of patients (Velayati et al. Hum Mutat 32(11):1232-1238, 2011).

Testing Strategy

This test provides full coverage of all coding exons of the SCARB2 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for SCARB2 testing include: 1) patients with symptoms of PME4, with or without renal failure, 2) patients diagnosed with ULD, but for whom no CSTB mutations have been found and 3) cases of suspected GD where serum βGC activity is elevated (Dibbens et al., 2009; Dardis et al. Mol Genet Metab. 97(4):309-311, 2009). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SCARB2.


Official Gene Symbol OMIM ID
SCARB2 602257
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Badhwar, A. et al. (2004). "Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder." Brain 127(Pt 10):2173-2182. PubMed ID: 15364701
  • Balreira, A. et al. (2008). "A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome." Hu Mol Genet 17(14):2238-2243. PubMed ID: 18424452
  • Dardis, A. et al. (2009). "Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme." Mol Genet Metab 97(4):309-311. PubMed ID: 19454373
  • Dibbens, L. M. et al. (2009). "SCARB2 Mutations in Progressive Myoclonus Epilepsy (PME) Without Renal Failure." Ann Neurol 66(4):532-536. PubMed ID: 19847901
  • Hopfner, F. et al. (2011). "Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features." BMC Neurol 11:134-141. PubMed ID: 22032306
  • Reczek, D. et al. (2007). "LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase." Cell 131(4):770-783. PubMed ID: 18022370
  • Velayati, A. et al. (2011). "A mutation in SCARB2 is a modifier in Gaucher disease." Hum Mutat 32(11):1232-1238. PubMed ID: 21796727


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