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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 GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
6939 SLC2A10 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
6939SLC2A1081479 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

  • Chun-An Chen, PhD

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.

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 Cardiology Panel

Citations

  • Callewaert et al. (2008). PubMed ID: 17935213
  • Coucke et al.(2006)  PubMed ID: 16550171

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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