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Blue Rubber Bleb Nevus Syndrome
Research Genetic test
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offered by
Laboratory of Human Molecular Genetics
GTR Test Accession: Help GTR000018736.1
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITYCANCER ... View more
Registered in GTR: 2015-12-10
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Last annual review date for the lab: 2024-08-14 LinkOut
At a Glance
Conditions (1): Help
Blue rubber bleb nevus
Genes (1): Help
GLMN (1p22.1)
Study description: Help
Family linkage studies and mutation screening; N.B. The TIE2/TEK gene …
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
Family linkage studies and mutation screening; N.B. The TIE2/TEK gene and the glomulin gene should have undergone (clinical) testing first. Genomic and transcriptomic screens on (frozen) tissue samples.
View citations (5)
  • Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM, Vikkula M. Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nat Genet. 2009;41(1):118-24. doi:10.1038/ng.272. Epub 2008 Dec 14. PMID: 19079259.
  • From germline towards somatic mutations in the pathophysiology of vascular anomalies. Limaye N, et al. Hum Mol Genet. 2009;18(R1):R65-74. doi:10.1093/hmg/ddp002. PMID: 19297403.
  • Wouters V, Limaye N, Uebelhoer M, Irrthum A, Boon LM, Mulliken JB, Enjolras O, Baselga E, Berg J, Dompmartin A, Ivarsson SA, Kangesu L, Lacassie Y, Murphy J, Teebi AS, Penington A, Rieu P, Vikkula M. Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects. Eur J Hum Genet. 2010;18(4):414-20. doi:10.1038/ejhg.2009.193. Epub 2009 Nov 04. PMID: 19888299.
  • 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.
  • Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Vikkula M, et al. Cell. 1996;87(7):1181-90. doi:10.1016/s0092-8674(00)81814-0. PMID: 8980225.
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
Research contact policy: Help
Laboratory can only accept contact from health care providers. Patients/families interested in participating in a research study should discuss this option with their health care provider.
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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