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Vascular Anomalies (VANseq) Expanded Del/Dup Panel
Clinical Genetic Test
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offered by
Seattle Children's Hospital Genetics Laboratories
View lab's test page
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GTR Test Accession: Help GTR000570485.4
CAP
INHERITED DISEASECARDIOVASCULARIMMUNOLOGY ... View more
Last updated in GTR: 2023-09-29
View version history
Last annual review date for the lab: 2024-08-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (50): Help
Capillary malformation; Abnormality of the lymphatic system; Arteriovenous malformation more...
Genes (47): Help
ACVRL1 (12q13.13); ANGPT2 (8p23.1); ARAF (Xp11.3); BRAF (7q34); CCBE1 (18q21.32) more...
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Microarray
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Seattle Children's Hospital Genetics Laboratories
View lab's website
View lab's test page
Test short name: Help
VANseq Expanded Deletion/Duplication Panel
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
VANseq del dup Test code LAB1920
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

How to Order: Help
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Contact policy, Test strategy
Conditions Help
Total conditions: 50
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 47
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Microarray
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Deletion/duplication analysis is performed with ThermoFisher’s CytoScan XON array, which provides exon-level resolution for detection of copy number variants. Analysis is limited to the targeted regions. When a copy number change is detected that extends into flanking genes, the genomic coordinates of the full variant will be reported. Copy number … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

CAP Testing Information Help
Next-Generation Sequencing-Germline; Next-generation sequencing; NGS
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information
Consumer resources:

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.