Cerebral Small Vessel Disease Panel
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Panel CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 12637 | Genes x (10) | 81479 | 81405(x2), 81406(x1), 81408(x1), 81479(x16) | $990 | 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 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.
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.
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 |
Diseases
Related Test
| Name |
|---|
| PGxome® |
Citations
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
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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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.