Arterial tortuosity syndrome - full panel - Clinical Genetic Test - GTR

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Arterial tortuosity syndrome - full panel

Clinical Genetic Test

offered by

CHEO Genetics Diagnostic Laboratory

GTR Test Accession: GTR000560806.2

INHERITED DISEASECARDIOVASCULARCONNECTIVE TISSUE ... View more

Last updated in GTR: 2019-07-19

Last annual review date for the lab: 2023-07-20

At a Glance

Test purpose:

Diagnosis; Predictive

Conditions (1):

Arterial tortuosity syndrome

Genes (1):

SLC2A10 (20q13.12)

Methods (1):

Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)

Target population:

Not provided

Clinical validity:

Not provided

Clinical utility:

Not provided

Ordering Information

Offered by:

CHEO Genetics Diagnostic Laboratory
View lab's website

Test short name:

ATS Full

Specimen Source:

Isolated DNA
Peripheral (whole) blood
View specimen requirements

Informed consent required:

Decline to answer

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Test Order Code, How to Order, Lab contact for this test, Contact policy, Test strategy, Test development

Conditions

Total conditions: 1

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 1

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 1

Method Category

Test method

Instrument *

Sequence analysis of the entire coding region

Next-Generation (NGS)/Massively parallel sequencing (MPS)

* Instrument: Not provided

Clinical Information

Test purpose:

Diagnosis; Predictive

Recommended fields not provided:

Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report

Technical Information

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

Arterial tortuosity syndrome (ATS) is characterized by clinical findings associated with the connective tissue disease. Affected individuals have severe and widespread arterial tortuosity of the aorta and middle-sized arteries (with an increased risk of aneurysms and dissections) and focal and widespread stenosis which can involve the aorta and/or pulmonary arteries … Arterial tortuosity syndrome (ATS) is characterized by clinical findings associated with the connective tissue disease. Affected individuals have severe and widespread arterial tortuosity of the aorta and middle-sized arteries (with an increased risk of aneurysms and dissections) and focal and widespread stenosis which can involve the aorta and/or pulmonary arteries and a characteristic facies with high palate wand dental crowding. These individuals have evidence of a generalized connective tissue disorder including soft/doughy skin, skeletal findings, hernias, hypotonia; and ocular involvement (myopia, keratoconus). ATS is associated with pathogenic variants in the SLC2A10 gene and is inherited in an autosomal recessive manner. DNA results are based on the analysis of the coding sequence and 10 base pairs immediately adjacent to each exon of SLC2A10 (NM_030777.3). This test is performed by oligonucleotide-based target capture (TruSight Cardio Panel, Illumina) followed by next generation sequencing using the MiSeq instrument (Illumina). All rare variants are checked for prior reports in the literature, the ClinVar, ExAC, Exome Variant Server databases and other relevant sources of information. Variant nomenclature is based on the Human Genome Variation Society recommended guidelines and GRCh37 (hg19) human reference genome assembly. Variant significance is categorized using ACMG Recommendations (PMID 25741868) and re-evaluated if/when the same variant is identified in another proband and > 12 months has elapsed since its original evaluation. For missense variants, in silico splicing prediction programs are used when the variant is within 10 nucleotides of an exon/intron junction, and not checked when the variant is elsewhere in an exon. Variant interpretation is carried out in reference to the test ordered, and may not be applicable for other disorders. Sequence variants of unlikely clinical significance are not reported but are available upon request. Additional Sanger sequencing is performed for any regions that are not captured and/or have insufficient coverage. If you have questions or concerns about coverage of a specific region of interest, please contact the laboratory directly. View more

Proficiency testing (PT):

Is proficiency testing performed for this test?
No

Recommended fields not provided:

Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Not provided

Additional Information

Reviews:

Genereviews

PubMed Clinical Queries

Clinical resources:

Molecular resources:

View SLC2A10 variations in ClinVar

RefSeqGene

Coriell Institute for Medical Research

Consumer resources:

Genetic Alliance

MalaCards

MedlinePlusGenetics (GHR)

NCATS Office of Rare Diseases Research (GARD)

MedlinePlus

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.