Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) via the SACS Gene
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 7915 | SACS | 81479 | 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.
Clinical Features and Genetics
Clinical Features
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS, OMIM 270550) is a complex neurodegenerative disorder caused by variants in the SACS gene (Engert et al. Nat Genet 24:120-125, 2000). The phenotype consists of childhood-onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. The disease has a long course with little progression after 20 years of age. Although rare, cases presenting in adulthood are known (Baets et al. Neurology 75:1181-1188, 2010). The first ARSACS patients were described by Bouchard et al. (Canad J Neurol Sci 5:61-69, 1978) as having ataxia, dysarthria, spasticity, and distal muscle wasting. Ophthalmological findings included nystagmus, abnormal conjugate pursuit of ocular movements, and retinal striation. Mitral valve prolapse was a common finding. In other patients, retinal striation has been found to be mild or absent (Grieco et al. Neurology 62: 103-106, 2004; Criscuolo et al. Neurology 62:100-102, 2004). Most patients become wheelchair-bound and cognitive function is usually not affected.
Genetics
ARSACS is an autosomal recessive disorder. Most SACS variants result in substitution of an amino acid for another amino acid or for a stop codon. Other common forms of variants include small deletions and insertions. Rarer forms of variants include splice site variants and gross deletions.
Clinical Sensitivity - Sequencing with CNV PG-Select
The carrier frequency among French Canadians of the Saguenay-Lac-Saint-Jean region was determined to be 1/21 (De Braekeleer et al. Genet Epidemiol 10:17-25, 1993). That ARSACS is not limited to the French Canadian population was demonstrated by Vermeer et al. (Neurogenetics 9:207-214, 2008), who found SACS variants in 16 of 43 Dutch patients with early-onset ataxia. Analytical sensitivity should be high because most reported SACS variants are detectable by gene sequencing.
Testing Strategy
This test provides full coverage of all coding exons of the SACS gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
Individuals with symptoms consistent with childhood-onset nemaline myopathy and autosomal dominant inheritance, who are negative for the more common causes of this disorder. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SACS.
Individuals with symptoms consistent with childhood-onset nemaline myopathy and autosomal dominant inheritance, who are negative for the more common causes of this disorder. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SACS.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| SACS | 604490 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Spastic Ataxia Charlevoix-Saguenay Type | AR | 270550 |
Citations
- Baets, J., et.al. (2010). "Mutations in SACS cause atypical and late-onset forms of ARSACS." Neurology 75(13): 1181-8. PubMed ID: 20876471
- Bouchard, J. P., et.al. (1978). "Autosomal recessive spastic ataxia of Charlevoix-Saguenay." Can J Neurol Sci 5(1): 61-9. PubMed ID: 647499
- Criscuolo, C., et.al. (2004). "A novel mutation in SACS gene in a family from southern Italy." Neurology 62(1): 100-2. PubMed ID: 14718706
- De Braekeleer, M., et.al. (1993). "Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec." Genet Epidemiol 10(1): 17-25. PubMed ID: 8472930
- Engert, J. C., et.al. (2000). "ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF." Nat Genet 24(2): 120-5. PubMed ID: 10655055
- Grieco, G. S., et.al. (2004). "Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type." Neurology 62(1): 103-6. PubMed ID: 14718707
- Vermeer, S., et.al. (2008). "ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia." Neurogenetics 9(3): 207-14. PubMed ID: 18465152
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
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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ORDER OPTIONS
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