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Spinocerebellar Ataxia, Autosomal Recessive-8 via the SYNE1 Gene Exons 2-146

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
11729 SYNE1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11729SYNE181479 81479,81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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

  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Autosomal recessive cerebellar ataxia 1 (ARCA1), also known as autosomal recessive spinocerebellar ataxia 8 (SCAR8) is a phenotypically homogeneous disorder with onset from the late teens to the fifth decade of life. Patients present with cerebellar ataxia or dysarthria and slowly progress to significant manifestations of both (Gros-Louis et al. 2007). Additional clinical signs include dysmetria, abnormal tendon reflexes in the lower extremities, and mild oculomotor involvement (Dupré et al. 2007). MRI studies show diffuse atrophy limited to the cerebellum (Dupré et al. 2011). Emery-Dreifuss muscular dystrophy (EDMD) is characterized clinically by joint contractures beginning in early childhood, slowly progressive muscle weakness and wasting, and cardiac involvement. A phenotype consisting of congenital muscular dystrophy (CMD) with adducted thumbs, mild mental retardation, and cerebellar hypoplasia has been reported in two sibs from a consanguineous family (Voit et al. 2002). SYNE1 variants were identified in these patients, and their muscle lacked SYNE1 protein at the nuclear envelope (Voit et al. 2007). One pedigree with arthrogryposis multiplex congenita due to a homozygous SYNE1 splicing variant has been reported (Attali et al. 2009).

Genetics

Cerebellar ataxia due to SYNE1 variants is inherited as an autosomal recessive disorder in families in the Beauce region of southeastern Quebec and, for this reason, it is also known as recessive ataxia of Beauce (Noreau A et al. 2013). EDMD due to SYNE1 variants appears to be inherited in a dominant pattern as a result of disrupted binding of nesperin-1 to lamin and emerin (Zhang et al. 2007). CMD with adducted thumbs and mental retardation is inherited as an autosomal recessive disorder, as is the one case of SYNE1-related arthrogryposis.

Clinical Sensitivity - Sequencing with CNV PGxome

SYNE1 variants are the only known cause of autosomal recessive spinocerebellar ataxia 8. Clinical sensitivity should be high for patients with symptoms consistent with a pure cerebellar ataxia who are of French Canadian heritage. Because allelic heterogeneity exists for this homogeneous population, it is reasonable to expect this gene to be causative in other populations as well. Among 190 probands with EDMD and without lamin or emerin variants, three were found to have heterozygous SYNE1 variants (Zhang et al. 2007). Too few cases of CMD caused by SYNE1 variants have been reported to estimate clinical sensitivity.

Testing Strategy

This test provides full coverage of all coding exons of the SYNE1 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Individuals with slowly progressive cerebellar ataxia and dysarthria with adult onset or with presentation consistent with EDMD, CMD with adducted thumbs and mental retardation, or recessive arthrogryposis. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SYNE1.

Gene

Official Gene Symbol OMIM ID
SYNE1 608441
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Attali R et al. 2009. Human Molecular Genetics. 18: 3462-9. PubMed ID: 19542096
  • Dupré N et al. 2007. Annals of Neurology. 62: 93-8. PubMed ID: 17503513
  • Dupré N et al. 2011. SYNE1-Related Autosomal Recessive Cerebellar Ataxia. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301553
  • Gros-Louis F et al. 2007. Nature Genetics. 39: 80-5. PubMed ID: 17159980
  • Noreau A et al. 2013. Jama Neurology. 70: 1296-31. PubMed ID: 23959263
  • Voit T et al. 2002. Neuromuscular Disorders : Nmd. 12: 623-30. PubMed ID: 12207929
  • Voit T et.al. 2007. Neuromuscular Disorders: Nmd. 17: 833-4.
  • Zhang Q et al. 2007. Human Molecular Genetics. 16: 2816-33. PubMed ID: 17761684

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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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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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