CLOVES syndrome
Research Genetic test
Help
offered by
GTR Test Accession: Help GTR000528964.1
INHERITED DISEASECANCERCONNECTIVE TISSUE ... View more
Registered in GTR: 2015-12-10
Last annual review date for the lab: 2024-08-14 LinkOut
At a Glance
CLOVES syndrome
Genes (1): Help
PIK3CA (3q26.32)
Screen for somatic and mosaic mutations in CLOVES patients
Currently open
Not provided
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Screen for somatic and mosaic mutations in CLOVES patients
View citations (1)
  • Ballieux F, Modarressi A, Hammer F, Clapuyt P, Docquier PL, Godfraind C, Feyaerts A, Brouillard P, Vikkula M, Boon LM. Reconstructive surgery in the management of a patient with CLOVES syndrome. J Plast Reconstr Aesthet Surg. 2013;66(12):1813-5. doi:10.1016/j.bjps.2013.06.045. Epub 2013 Jul 16. PMID: 23867238.
Offered by: Help
Laboratory of Human Molecular Genetics
Person responsible for the study: Help
Miikka Vikkula, PhD, MD, Lab Director
Study contact: Help
Miikka Vikkula, PhD, MD, Lab Director
Recommended fields not provided:
Participation
Recruitment status: Help
Currently open
Consent form: Help
Not provided
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Technical Information
Recommended fields 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.