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Spastic Paraplegia 49 via the TECPR2 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
5039 TECPR2 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
5039TECPR281479 81479,81479 $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

  • Greg Fischer, PhD

Clinical Features and Genetics

Clinical Features

Spastic paraplegia 49 (SPG49) is a type of hereditary spastic paraplegia (HSP) (Lo Giudice et al. 2014). SPG49 has been described in Jewish Bukharian families with early onset of spastic paraplegia, mental retardation, delayed psychomotor development and thin corpus callosum on brain imaging. Some affected individuals may also have dysmorphic features, e.g., short stature, short broad neck, low anterior hairline, round face, dental crowding and chubby appearance (Oz-Levi et al. 2012; Zhu et al. 2015). In addition to evolving spasticity and intellectual disability, patients from non-Bukharian families reported by Heimer et al. (2016) also manifest autonomic-sensory neuropathy accompanied by chronic respiratory disease.

Genetics

The transmission manner in the reported families with SPG49 is consistent with autosomal recessive (AR) inheritance (Oz-Levi et al. 2012; Zhu et al. 2015; Heimer et al. 2016). Pathogenic variants in TECPR2 (tectonin beta-propeller repeat containing 2) gene are causative for this form of complex spastic paraplegia. The TECPR2 protein belongs to the tectonin β-propeller repeat-containing protein family, containing WD (tryptophan-aspartic acid repeat) and TECPR domains (Oz-Levi et al. 2013). Functional studies using skin fibroblasts from SPG49 patients show that the TECPR2 protein has a positive role in autophagy. Pathogenic variants in TECPR2 gene may induce accumulation of dysfunctional proteins in neurons leading them to death (Oz-Levi et al. 2013; Behrends et al. 2010). Reported TECPR2 pathogenic variants include missense and small frameshift deletions (Human Gene Mutation Database).

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. All reported pathogenic variants to date in TECPR2 gene are detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the TECPR2 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Patients showing features consistent with AR-HSP, intellectual disability, and autonomic-sensory neuropathy are candidates for this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in TECPR2.

Gene

Official Gene Symbol OMIM ID
TECPR2 615000
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Spastic Paraplegia 49 AR 615031

Citations

  • Behrends C. et al. 2010. Nature. 466: 68-76. PubMed ID: 20562859
  • Heimer G. et al. 2016. European Journal of Paediatric Neurology. 20: 69-79. PubMed ID: 26542466
  • Human Gene Mutation Database (Bio-base).
  • Lo Giudice T. et al. 2014. Experimental Neurology. 261: 518-39. PubMed ID: 24954637
  • Oz-Levi D. et al. 2012. American Journal of Human Genetics. 91: 1065-72. PubMed ID: 23176824
  • Oz-Levi D. et al. 2013. Autophagy. 9: 801-2. PubMed ID: 23439247
  • Zhu X. et al. 2015. Genetics in Medicine. 17: 774-81. PubMed ID: 25590979

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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