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Hereditary Sensory Neuropathy with Spastic Paraplegia via the CCT5 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
CCT5 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11157CCT581479 81479,81479 $990 Order Options and Pricing

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).

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.


Genetic Counselors


  • Greg Fischer, PhD

Clinical Features and Genetics

Clinical Features

Hereditary Sensory Neuropathy with Spastic Paraplegia is a rare form of sensory neuropathy with ulcerations on hands and feet, and additional features of spastic paraplegia (Cavanagh et al. 1979). This type of disease has only been described in a few families (Cavanagh et al. 1979; Thomas et al. 1994; Bouhouche et al. 2006). Thomas et al. described axonopathy with loss of myelinated and unmyelinated nerve fibers in some affected individuals (Thomas et al. 1994). Bouhouche et al. reported 4 sibs in a consanguineous Moroccan family with similar clinical features. Among the 4 sibs in this study, the age of onset is from 1 to 5 years. The progression of sensory neuropathy was rapid while the spasticity progressed slowly (Bouhouche et al. 2006).  

Based on clinical features, age at onset and mode of inheritance, hereditary sensory neuropathy is subdivided into 5 distinct types, type 1-5 (Rotthier et al. 2012). This specific type with spastic paraplegia does not fit into the current 5 classifications. 


Hereditary sensory neuropathy with spastic paraplegia is inherited as an autosomal recessive disorder and is caused by pathogenic variants in CCT5 (Bouhouche et al. 2006). Bouhouche et al. identified a homozygous pathogenic variant (c.440A>G, p.His147Arg) in CCT5. This variant was absent in 384 ethnically matched control chromosomes tested (Bouhouche et al. 2006). CCT5 encodes the subunit 5 of the chaperonin-containing TCP1 complex (CCT). The CCT complex mediates the proper folding of cytoskeletal proteins by binding to actin and tubulin (Llorca et al. 2001).  

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. The only reported pathogenic variant, c.440A>G, is detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the CCT5 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

Patients manifesting sensory neuropathy as well as spasticity may consider this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CCT5.


Official Gene Symbol OMIM ID
CCT5 610150
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Bouhouche A. et al. 2006. European Journal of Human Genetics. 14: 249-52. PubMed ID: 16333315
  • Bouhouche A. et al. 2006. Journal of Medical Genetics. 43: 441-3. PubMed ID: 16399879
  • Cavanagh et al. 1979. Brain. 102:79-94. PubMed ID: 218673
  • Llorca O. et al. 2001. Journal of Structural Biology. 135: 205-18. PubMed ID: 11580270
  • Rotthier A. et al. 2012. Nature Reviews. Neurology. 8: 73-85. PubMed ID: 22270030
  • Thomas P.K. et al. 1994. Brain : a Journal of Neurology. 117 ( Pt 4): 651-9. PubMed ID: 7922454


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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

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2) Select Additional Test Options

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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