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Spastic Paraplegia 58 via the KIF1C 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
KIF1C 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
5407KIF1C81479 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.


Genetic Counselors


  • Greg Fischer, PhD

Clinical Features and Genetics

Clinical Features

Spastic paraplegia 58 (SPG58) is a type of hereditary spastic paraplegia (HSP) and is characterized by spasticity in the lower limbs, dysarthria, cervical dystonia and cerebellar ataxia. It has been noted that in some cases the spasticity may affect all four limbs late in life. Some patients with SPG58 may also manifest mild mental retardation and developmental delay. These symptoms typically begin to appear in childhood (Bouslam et al. 2007; Caballero Oteyza et al. 2014; Dor et al. 2014; Novarino et al. 2014).


Studies from families with SPG58 suggest a dual inheritance pattern: mostly autosomal recessive (AR), but autosomal dominant (AD) inheritance has also been observed. Compound heterozygous and homozygous pathogenic variants have been found in the KIF1C gene to cause SPG58 (Caballero Oteyza et al. 2014; Dor et al. 2014; Novarino et al. 2014). Some individuals with the same variants in a heterozygous state may show a less severe or subclinical phenotype (Caballero Oteyza et al. 2014). The KIF1C (Kinesin family member 1C) gene encodes KIF1C protein, which is a member of the kinesin-like motor protein family. The exact function of KIF1C is not clear, but it is considered to be involved in the retrograde vesicular transport of Golgi to endoplasmic reticulum (Dorner et al. 1998).

SPG58 is allelic with autosomal recessive spastic ataxia 2 (SPAX2). The gene KIF1C was shown to be within the SPAX2 locus and it has been confirmed that KIF1C is the SPAX2 gene based on the study done in the original SPAX2 family (Bouslam et al. 2007; Novarino et al. 2014).

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. Almost all the pathogenic variants reported to date in KIF1C gene are detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the KIF1C 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 spastic paraplegia complicated by cerebellar ataxia and dysarthria are candidates for this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in KIF1C.


Official Gene Symbol OMIM ID
KIF1C 603060
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Spastic Ataxia 2, Autosomal Recessive AR 611302


  • Bouslam N. et al. 2007. Human Genetics. 121: 413-20. PubMed ID: 17273843
  • Caballero Oteyza A. et al. 2014. Neurology. 82: 2007-16. PubMed ID: 24808017
  • Dor T. et al. 2014. Journal of Medical Genetics. 51: 137-42. PubMed ID: 24319291
  • Dorner C. et al. 1998. The Journal of Biological Chemistry. 273: 20267-75. PubMed ID: 9685376
  • Novarino G. et al. 2014. Science. 343: 506-11. PubMed ID: 24482476


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

1) Select Test Method (Platform)

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2) Select Additional Test Options

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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