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Cerebral Small Vessel Disease Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
12637 COL4A1 81408,81479 Order Options and Pricing
COL4A2 81479,81479
COLGALT1 81479,81479
CTC1 81479,81479
CTSA 81479,81479
FOXC1 81479,81479
GLA 81405,81479
HTRA1 81405,81479
NOTCH3 81406,81479
TREX1 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
12637Genes x (10)81479 81405(x2), 81406(x1), 81408(x1), 81479(x16) $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

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).

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

  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

Cerebral small vessel disease is a rare group of inherited heterogeneous disorders which affect small vessels of the brain, including small arteries, arterioles, capillaries, and small veins, as well as their interactions with perivascular structures. This group of disorders is one cause of stroke and cognitive impairment (Choi. 2015. PubMed ID: 25692103; Marini et al. 2020. PubMed ID: 31752611; Yamamoto et al. 2011. PubMed ID: 21062344). The common clinical manifestations of cerebral small vessel disease are lacunar infarct, cognitive defect, intracerebral hemorrhage, migraine, and renal involvement. Other features may include psychiatric symptoms and encephalopathy. Onset has been reported from childhood to adulthood, with adulthood being the most common. The overall incidence of Cerebral small vessel disease in Asia is higher than that in United states or Europe. Cerebral small vessel disease accounts for 15-26% of ischemic stroke in Europe and the United States, while it accounts for 25-54% of ischemic stroke in Asia (Choi. 2015. PubMed ID: 25692103; Marini et al. 2020. PubMed ID: 31752611).

Neuroimaging studies show cerebral white matter lesions, lacunes of presumed vascular origin, cerebral microbleeds, dilated perivascular spaces, and total cerebral atrophy (Marini et al. 2020. PubMed ID: 31752611).

Cerebral small vessel disease can be caused by defect in a number of genes with variable and overlapping presentations. This disease can be difficult to diagnose by clinical manifestation and image studies only. An accurate molecular diagnosis is critical for treatment, prognosis, prediction of recurrence risk, as well as future family plans.

Genetics

The panel focuses on a group of well-recognized genes which are mainly causative for cerebral small vessel disease (Choi. 2015. PubMed ID: 25692103; Marini et al. 2020. PubMed ID: 31752611; Tan et al. 2019. PubMed ID: 31719132). Cerebral small vessel diseases can be inherited in an autosomal dominant (COL4A1, COL4A2, FOXC1, HTRA1, NOTCH3, TREX1), autosomal recessive (COLGALT1, CTC1, CTSA, HTRA1, TREX1), or X-linked manner (GLA). The most common cerebral small vessel diseases include cerebral autosomal dominant /recessive arteriopathy with subcortical infarcts, leukoencephalopathy in CADASIL and CARASIL (NOTCH3, HTRA1), and brain small vessel disease (COL4A1 and COL4A2). A wide variety of causative variants in these genes have been reported including missense, nonsense, splicing, small insertions/deletions, large deletions/duplications and complex rearrangements (Human Gene Mutation Database). De novo pathogenic variants are common in some of the genes, such as COL4A1 and COL4A2.

The gene products have a variety of different functions, for example, NOTCH3 encodes a transmembrane protein, COL4A1 encodes the alpha-1 subunit of collagen type IV, while GLA encodes alpha-galactosidase, a lysosomal hydrolase.

See individual gene summaries for more information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

This panel contains genes causative for cerebral small vessel disease. Sensitivity varies depending upon the disorder. For example, in a study of 950 patients with lacunar stroke, the authors found the most common causes were NOTCH3 pathogenic variants (11 patients), followed by HTRA1 pathogenic variants (2 patients), and COL4A1 pathogenic variants (1 patient) (Tan et al. 2019. PubMed ID: 31719132).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% coverage of all coding exons of the genes 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 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

This panel is recommended for patients suspected to have cerebral small vessel disease.

Genes

Official Gene Symbol OMIM ID
COL4A1 120130
COL4A2 120090
COLGALT1 617531
CTC1 613129
CTSA 613111
FOXC1 601090
GLA 300644
HTRA1 602194
NOTCH3 600276
TREX1 606609
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Choi. 2015. PubMed ID: 25692103
  • Human Gene Mutation Database (Biobase).
  • Marini et al. 2020. PubMed ID: 31752611
  • Tan et al. 2019. PubMed ID: 31719132
  • Yamamoto et al. 2011. PubMed ID: 21062344

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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