Arterial tortuosity syndrome (ATS) via the SLC2A10 Gene
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 6939 | SLC2A10 | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
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
Arterial tortuosity syndrome (ATS) is a rare connective tissue disease characterized by tortuosity of the aorta and/or large and middle sized arteries throughout the body. Aortic root dilation, stenosis, and aneurysms of the large arteries are also common. Individuals may have acute respiratory symptoms due to pulmonary artery stenosis. Additional features include joint laxity and hyperextensible skin. ATS clinical features overlap with Loeys-Dietz syndrome.
Genetics
ATS is an autosomal recessive disorder caused by mutations in the SLC2A10 gene, which encodes the glucose transporter, GLUT10 (Coucke et al. Nat Genet 38:452-457, 2006). GLUT10 deficiency is associated with upregulation of phosyphorylated SMAD2 in the arterial wall, a finding also observed in patients with Loeys-Dietz syndrome (Coucke et al., 2006). Mutations throughout the coding region have been found in patients with ATS. Heterozygous carriers have not been found to have vascular anomalies (Callewaert et al. Hum Mutat 29:150-158, 2008).
Clinical Sensitivity - Sequencing with CNV PG-Select
Callewaert et al. (2008) found biallelic mutations in SLC2A10 in 12/12 families with arterial tortuosity syndrome (Callewaert et al. Hum Mutat 29:150-158, 2008).
Clinical sensitivity for CNV detection is difficult to predict for SLC2A10 pathogenic variants due the small number of cases.
Testing Strategy
This test provides full coverage of all coding exons of the SLC2A10 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
Patients with autosomal recessive arterial tortuosity syndrome. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SLC2A10.
Patients with autosomal recessive arterial tortuosity syndrome. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SLC2A10.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| SLC2A10 | 606145 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Arterial Tortuosity Syndrome | AR | 208050 |
Related Test
| Name |
|---|
| Comprehensive Arrhythmia and Cardiomyopathy Panel |
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
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ORDER OPTIONS
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