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Spastic Paraplegia 12 via the RTN2 Gene

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
4917 RTN2 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4917RTN281479 81479,81479 $990 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.

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 platform).

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

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

For Sanger Sequencing click here.

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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Greg Fischer, PhD

Clinical Features and Genetics

Clinical Features

Spastic Paraplegia 12 (SPG12) is a type of hereditary spastic paraplegia (HSP), characterized by spasticity and hyperreflexia in lower limbs. Some patients may also have urinary symptoms and distal sensory impairments. SPG12 has been described in a Welsh family and an Italian family. The age at onset of SPG12 is variable and averages about 10 years (Reid et al. 2000; Orlacchio et al. 2002). Typically, SPG12 is a pure form of HSP with rapid progression, and most patients become wheelchair-bound within a couple of years after onset (Reid et al. 2000).

Genetics

The transmission pattern of SPG12 in reported cases is consistent with autosomal dominant inheritance (Reid et al. 2000; Orlacchio et al. 2002). Montenegro et al. (2012) mapped SPG12 to RTN2. RTN2 belongs to the reticulon encoding gene family. RTN2 contains a uniquely conserved C-terminal domain (RHD, reticulon homology domain) and regulates ER structure and functions (Chiurchiu et al. 2014). RTN2 interacts with other proteins implicated in HSP, e.g., spastin (SPG4), atlastin-1 (SPG3A) and REEP1 (SPG31). These proteins form a complex to shape ER into sheets and tubules. To date, only 3 pathogenic variants have been identified in the RTN2 gene (Human Gene Mutation Database). Montenegro et al. (2012) found a heterozygous 1-bp duplication (c.178dupC) and a heterozygous complete deletion of the RTN2 gene. Neveling et al. (2013) identified a 1-bp deletion (c.939delT).

Clinical Sensitivity - Sequencing with CNV PGxome

It is difficult to estimate the clinical sensitivity of this test due to the lack of large cohort studies. Pathogenic variants in RTN2 appear to be a rare cause of spastic paraplegia.

Testing Strategy

This test provides full coverage of all coding exons of the RTN2 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 symptoms consistent with a pure form of autosomal dominant spastic paraplegia, and family members of patients who have known SPG12 variants are candidates for this test.

Gene

Official Gene Symbol OMIM ID
RTN2 603183
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Spastic Paraplegia 12 AD 604805

Citations

  • Chiurchi├╣ V. et al. 2014. Neuromolecular Medicine. 16: 3-15. PubMed ID: 24218324
  • Human Gene Mutation Database (Bio-base).
  • Montenegro G .et al. 2012. The Journal of Clinical Investigation. 122: 538-44. PubMed ID: 22232211
  • Neveling K. et al. 2013. Human Mutation. 34: 1721-6. PubMed ID: 24123792
  • Orlacchio A. et al. 2002. Neurology. 59: 1395-401. PubMed ID: 12427890
  • Reid E. et al. 2000. American Journal of Human Genetics. 66: 728-32. PubMed ID: 10677333

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

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View Ordering Instructions

1) Select Test Method (Platform)


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.
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