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 GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
15409 USP8 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15409USP881479 81479(x2) $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

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.

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


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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