Vascular Malformations Panel, Sequencing and Deletion/Duplication
GTR Test Accession: Help GTR000505110.8
Last updated in GTR: 2023-07-31
Last annual review date for the lab: 2023-07-17 LinkOut
At a Glance
Megalencephaly-capillary malformation-polymicrogyria syndrome; Capillary malformation-arteriovenous malformation syndrome; Cerebral cavernous malformation; ...
ACVRL1 (12q13.13), AKT1 (14q32.33), BMPR2 (2q33.1-33.2), CCBE1 (18q21.32), CCM2 (7p13), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Individuals with clinical suspicion/diagnosis of disorders associated with structural defects …
Not provided
Not provided
Ordering Information
Offered by: Help
ARUP Laboratories, Molecular Genetics and Genomics
View lab's website
View lab's test page
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Test Order Code: Help
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test service: Help
Custom Deletion/Duplication Testing
    Comment: Assess for a large deletion or duplication in a single gene
    OrderCode: 3003144
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 24
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 28
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Target population: Help
Individuals with clinical suspicion/diagnosis of disorders associated with structural defects of blood vessels.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. .

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical sensitivity is approximately 99 percent for single nucleotide variants (SNVs) and greater than 93 percent for insertions/duplications/deletions (indels) from 1-10 base pairs in size. Indels greater than 10 base pairs may be detected, but the analytical sensitivity may be reduced. Deletions of 2 exons or larger are detected … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.