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Myoclonus-Dystonia Syndrome via the SGCE 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
8435 SGCE 81406 81406,81405 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8435SGCE81406 81406,81405 $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.

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

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Jamie Fox, PhD

Clinical Features and Genetics

Clinical Features

Myoclonus-dystonia (M-D) (OMIM 159900) is characterized by myoclonus (rapid, brief muscle contractions) and dystonia (abnormal sustained postures or sustained twisting and repetitive movements) with onset of symptoms usually in childhood or early adolescence. Dystonia of the neck and head and writer's cramp are common. The myoclonus affects primarily the neck, trunk, and arms, sparing the face and legs. Psychiatric features, particularly anxiety and obsessive-compulsive disorders and alcohol dependence, have been reported (Hess et al. Neurology 68:522-524, 2007). Alcohol ingestion results in a dramatic reduction in myoclonus in most affected adults. (Hess et al. Addict Biol 11:117-125, 2006).

Genetics

The SGCE gene (M-D caused by variant in SGCE is also known as DYT11) is the primary gene known to be associated with M-D. M-D is inherited in an autosomal dominant manner with incomplete penetrance. Almost all children who inherit a variant from their fathers develop symptoms, while only ~15% of children who inherit a variant from their mothers develop symptoms (Grabowski et al. Eur J Hum Genet 11:138-144, 2003; Nemeth Brain 125:695-721, 2002). De novo gene variants have also been observed (Borges et al. Mov Disord 22:1208-9, 2007; Hedrich et al. Neurology. 62:1229-1231, 2004). Causative SGCE variants are largely frameshift, nonsense, and splicing.

Variants in the TOR1A gene have also been implicated in M-D. Testing for the TOR1A gene is available from PreventionGenetics. Several M-D families show linkage to a region of chromosome 18p (locus DYT15). This putative M-D gene has not yet been identified. (Han et al. Mov Disord 22:888-92, 2007; Schule et al. J Neurol Neurosurg Psychiatry 75:1181-1185, 2004).

Clinical Sensitivity - Sequencing with CNV PG-Select

SGCE variants are thought to be found in between 30-50% of familial M-D patients and in 10-15% of non-familial cases (Raymond and Ozelius, GeneReviews, Myoclonus-Dystonia, 2005).

Testing Strategy

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

Indications for Test

Candidates for this test are patients with symptoms consistent with M-D and the family members of patients with known variants. In addition to this SGCE gene test, PreventionGenetics also offers sequencing of most of the other known dystonia genes.

Gene

Official Gene Symbol OMIM ID
SGCE 604149
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Myoclonic Dystonia AD 159900

Citations

  • Borges, V., et.al. (2007). "Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia." Mov Disord 22(8): 1208-9. PubMed ID: 17394244
  • Deborah Raymond, Laurie Ozelius (2005). "Myoclonus-Dystonia." PubMed ID: 20301587
  • Grabowski, M., et.al. (2003). "The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted." Eur J Hum Genet 11(2): 138-44. PubMed ID: 12634861
  • Han, F., et.al. (2007). "Refinement of the DYT15 locus in myoclonus dystonia." Mov Disord 22(6): 888-92. PubMed ID: 17274032
  • Hedrich, K., et.al. (2004). "Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations." Neurology 62(7): 1229-31. PubMed ID: 15079037
  • Hess, C. W., et.al. (2007). "Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers." Neurology 68(7): 522-4. PubMed ID: 17296918
  • Hess, C. W., Saunders-Pullman, R. (2006). "Movement disorders and alcohol misuse." Addict Biol 11(2): 117-25. PubMed ID: 16800824
  • Nemeth, A. H. (2002). "The genetics of primary dystonias and related disorders." Brain 125(Pt 4): 695-721. PubMed ID: 11912106
  • Schule, B., et.al. (2004). "Genetic heterogeneity in ten families with myoclonus-dystonia." J Neurol Neurosurg Psychiatry 75(8): 1181-5. PubMed ID: 15258227

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.
  • 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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


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.

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