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Spastic Paraplegia 13 via the HSPD1 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
9919 HSPD1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9919HSPD181479 81479(x2) $890 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 backbone).

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

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

For Sanger Sequencing click here.

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 13 (SPG13) is a type of hereditary spastic paraplegia (HSP). This disorder has been observed in only a limited number of families and the reported patients with the disease manifest babinski sign, hyperreflexia, progressive lower limb spasticity and muscle weakness. Some patients may also have urinary bladder sphincter dysfunction (Fontaine et al. 2000; Hansen et al. 2007). In the single family reported by Fontaine et al. (2000), the onset of SPG13 ranges from 17 to 58 years of age. Incomplete penetrance of the disease has been suggested by one study (Hansen et al. 2007).

Genetics

SPG13 is caused by pathogenic variants in HSPD1 gene. HSPD1 encodes the heat shock protein 60, which is a molecular chaperone involved in the folding of proteins localized in mitochondria (Bross et al. 2008). To date, only two missense variants have been identified in HSPD1 to cause SPG13 (Human Gene Mutation Database). The transmission mode in the reported families is consistent with autosomal dominant (AD) inheritance (Hansen et al. 2002; Hansen et al. 2007).

A homozygous variant (c.86A>G, p.Asp29Gly) has been observed in HSPD1 to cause hypomyelinating leukodystrophy, which is a different disorder distinguished from SPG13 by its early age of onset, autosomal recessive inheritance, cerebral involvement and lethality (Magen et al. 2008).

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 HSPD1 gene appear to be a rare cause of spastic paraplegia. All the known pathogenic variants in this gene can be detected by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the HSPD1 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 with symptoms consistent with a pure form of AD HSP may consider this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in HSPD1.

Gene

Official Gene Symbol OMIM ID
HSPD1 118190
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Leukodystrophy, Hypomyelinating, 4 AR 612233
Spastic Paraplegia 13 AD 605280

Citations

  • Bross P. et al. 2008. The Journal of Biological Chemistry. 283: 15694-700. PubMed ID: 18400758
  • Fontaine B. et al. 2000. American Journal of Human Genetics. 66: 702-7. PubMed ID: 10677329
  • Hansen J. et al. 2007. Journal of Neurology. 254: 897-900. PubMed ID: 17420924
  • Hansen J.J. et al. 2002. American Journal of Human Genetics. 70: 1328-32. PubMed ID: 11898127
  • Human Gene Mutation Database (Bio-base).
  • Magen D. et al. 2008. American Journal of Human Genetics. 83: 30-42. PubMed ID: 18571143

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

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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