Somatic Overgrowth and Vascular Malformations Gene Panel
GTR Test Accession: Help GTR000520081.9
Last updated in GTR: 2024-06-04
Last annual review date for the lab: 2024-05-30 LinkOut
At a Glance
Diagnosis; Drug Response; Mutation Confirmation; ...
Overgrowth syndrome; CLOVES syndrome; Congenital macrodactylia; ...
AKT1 (14q32.33), AKT2 (19q13.2), AKT3 (1q43-44), BRAF (7q34), CCM2 (7p13), ...
Molecular Genetics - Mutation scanning of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
Confirmation of a clinical diagnosis, assist in determination of appropriate …
Not provided
Ordering Information
Offered by: Help
Genetic Diagnostic Laboratory
View lab's website
View lab's test page
Test short name: Help
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Buccal swab
  • Cell culture
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Saliva
  • Skin
  • View specimen requirements
Who can order: Help
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Registered Nurse
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.
How to Order: Help
Submit test-specific paperwork with sample of affected tissue (i.e. skin) AND unaffected tissue (i.e. blood). Both samples are included in price.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
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: 9
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 34
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Mutation scanning of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Sequence analysis of the entire coding region
Capture based
Clinical Information
Test purpose: Help
Diagnosis; Drug Response; Mutation Confirmation; Prognostic; Therapeutic management
Clinical validity: Help
Confirmation of a clinical diagnosis, assist in determination of appropriate medical management, identification of at risk family members, and/or prognostic evaluation.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Our variant classification system is based on the American College of Medical Genetics and Genomics guidelines (Genet Med. 2015 May;17(5):405-24). This includes evaluating the variant using in gene-specific mutation databases, gnomAD, dbSNP, and in silico prediction software (SIFT, PolyPhen).

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer. Free testing for VUS in family members is offered on a case by case basis; information may be collected by the lab to see which family members are available and if their results will help assess for the significance of the variant.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Technical Information
Test Platform:
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This analysis includes the coding exons and flanking intron (+/-20 bp) sequences of 34 genes. The limit of variant allele detection is 1% at 2500x read depth and the threshold for mutation detection is set at 10 reads without strand bias. This technology cannot reliably detect mutations at coverage below … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Software used to interpret novel variations Help
SIFT, PolyPhen, Mutation Taster, Human Splice Finder

Laboratory's policy on reporting novel variations Help
Novel variations may be reported with added interpretation based on variant type and in the context of known mutations for the specific gene.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.