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Spastic Paraplegia 15 via the ZFYVE26 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
5477 ZFYVE26 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
5477ZFYVE2681479 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

SPG15 is a type of hereditary spastic paraplegia (HSP) characterized by progressive muscle stiffness and weakness. SPG15 is considered a complex type of HSP, i.e., the clinical features may involve all four limbs and may show many additional symptoms such as mental retardation, retinal degeneration, hearing loss, distal amyotrophy and dysarthria (Kjellin., 1959. PubMed ID: 14409555; Boukhris et al., 2008. PubMed ID: 18098276; Hanein et al., 2008. PubMed ID: 18394578; Goizet et al., 2009. PubMed ID: 19805727). Similar to patients with SPG11, SPG15 patients also show thin corpus callosum (TCC) on brain MRI, which is known as HSP-TCC (Schüle et al., 2009. PubMed ID: 19917823). The age of onset is quite variable, but most SPG15 patients begin to manifest symptoms between 5 and 35 years of age (Sachdev et al., 2005. PubMed ID: 16217069; Elleuch et al., 2007. PubMed ID: 17661097; Goizet et al., 2009. PubMed ID: 19805727).

Genetics

SPG15 is inherited in an autosomal recessive (AR) manner. This disorder is caused by homozygous or compound heterozygous pathogenic variants in the ZFYVE26 gene. To date, different types of variants (missense, nonsense, splicing and frameshift deletions/duplications) have been found in ZFYVE26 to cause SPG15 (Human Gene Mutation Database). ZFYVE26 encodes the protein Spastizin, which contains a FYVE zinc finger binding domain. It is important for the formation and maturation of autophagosomes. Defective autophagy is believed to be the main cause of neurodegeneration seen in SPG15 patients (Hanein et al., 2008. PubMed ID: 18394578; Vantaggiato et al., 2014. PubMed ID: 24284334).

Clinical Sensitivity - Sequencing with CNV PG-Select

In a large cohort of patients with Hereditary Spastic Paraplegia-Thin Corpus Callosum from Austria, Belgium, France, Middle East and North Africa, Spastic Paraplegia 15 accounts for 11.5% of all the cases and it is the second most common type after Spastic Paraplegia 11 (Goizet et al., 2009. PubMed ID: 19805727). Almost all the pathogenic variants in the ZFYVE26 gene reported to date can be detected by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the ZFYVE26 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Patients with HSP-TCC, and especially the ones who are SPG11 negative, may consider this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ZFYVE26.

Gene

Official Gene Symbol OMIM ID
ZFYVE26 612012
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Spastic Paraplegia 15 AR 270700

Citations

  • Boukhris et al., 2008. PubMed ID: 18098276
  • Elleuch et al., 2007. PubMed ID: 17661097
  • Goizet et al., 2009. PubMed ID: 19805727
  • Hanein et al., 2008. PubMed ID: 18394578
  • Human Gene Mutation Database (Bio-base).
  • Kjellin., 1959. PubMed ID: 14409555
  • Sachdev et al., 2005. PubMed ID: 16217069
  • Schüle et al., 2009. PubMed ID: 19917823
  • Vantaggiato et al., 2014. PubMed ID: 24284334

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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