Spastic Paraplegia 59 via the USP8 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 | |
|---|---|---|---|---|---|
| 15409 | USP8 | 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
Spastic Paraplegia 59 (SPG59) is a type of hereditary spastic paraplegia (HSP) identified recently by whole-exome sequencing (WES) in combination with network analysis (Novarino et al. 2014). Novarino et al. (2014) described 3 affected children (2 boys and 1 girl) in a consanguineous family segregating spastic paraplegia. With support, all the affected individuals are able to walk with a spastic gait. One individual has equinovarus and all have clonus. Brain MRI is normal. Two children show normal cognition and another one has borderline IQ.
Genetics
The transmission pattern of SPG59 reported by Novarino et al. (2014) is consistent with autosomal recessive inheritance. Novarino et al. (2014) identified a pathogenic variant c.928C>A in the USP8 gene, resulting in a p.Gln310Lys substitution. The protein USP8 (ubiquitin specific peptidase 8) is required for the regulation of cell cycle and also functions as a positive regulator in the Hedgehog signaling during development.
Clinical Sensitivity - Sequencing with CNV PG-Select
It is difficult to estimate the clinical sensitivity of this test due to the lack of large cohort studies. The only reported pathogenic variant, c.928C>A, is detectable by sequencing.
Testing Strategy
This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.
This test provides full coverage of all coding exons of the USP8 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.
Indications for Test
Patients with clinical symptoms consistent with autosomal recessive HSP may consider this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in USP8.
Patients with clinical symptoms consistent with autosomal recessive HSP may consider this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in USP8.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| USP8 | 603158 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|
Citations
- Novarino G. et al. 2014. Science (new York, N.y.). 343: 506-11. PubMed ID: 24482476
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
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.