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Lymphatic malformation
Research Genetic test
Help
offered by
Laboratory of Human Molecular Genetics
GTR Test Accession: Help GTR000528963.1
IMMUNOLOGYINHERITED DISEASECARDIOVASCULAR ... View more
Last updated in GTR: 2015-12-10
View version history
Last annual review date for the lab: 2023-08-29 LinkOut
At a Glance
Conditions (1): Help
Lymphatic malformation
Genes (1): Help
PIK3CA (3q26.32)
Study description: Help
Screen for somatic mutations in LM lesions.
Recruitment status: Help
Currently open
Eligibility criteria: Help
Not provided
Methods (1): Help
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 mutations in LM lesions.
View citations (4)
  • Elevated D-dimer level in the differential diagnosis of venous malformations. Dompmartin A, et al. Arch Dermatol. 2009;145(11):1239-44. doi:10.1001/archdermatol.2009.296. PMID: 19917952.
  • Brouillard P, Boon L, Vikkula M. Genetics of lymphatic anomalies. J Clin Invest. 2014;124(3):898-904. doi:10.1172/JCI71614. Epub 2014 Mar 03. PMID: 24590274.
  • Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M, . Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies. Pediatrics. 2015;136(1):e203-14. doi:10.1542/peds.2014-3673. Epub 2015 Jun 08. PMID: 26055853.
  • Somatic Activating PIK3CA Mutations Cause Venous Malformation. Limaye N, et al. Am J Hum Genet. 2015;97(6):914-21. doi:10.1016/j.ajhg.2015.11.011. PMID: 26637981.
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:
Protocol number
Participation
Recruitment status: Help
Currently open
Consent form: Help
Not provided
Recommended fields not provided:
Eligibility criteria
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:
Test Confirmation
Additional Information

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