Primary lymphedema
Research Genetic test
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GTR Test Accession: Help GTR000241435.3
IMMUNOLOGYINHERITED DISEASECARDIOVASCULAR ... View more
Last updated in GTR: 2015-12-10
Last annual review date for the lab: 2023-08-29 LinkOut
At a Glance
Lymphedema praecox
Genes (1): Help
GJC2 (1q42.13)
Family linkage analysis and mutation detection by NGS. A mutation …
Currently open
Not provided
Molecular Genetics - Mutation scanning 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 analysis and mutation detection by NGS. A mutation in known genes should be tested a priori (VEGFR3, FOXC2, SOX18, Connexin 47, etc.).
View citations (5)
  • Irrthum A, Karkkainen MJ, Devriendt K, Alitalo K, Vikkula M. Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet. 2000;67(2):295-301. doi:10.1086/303019. Epub 2000 Jun 09. PMID: 10856194.
  • Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. Ghalamkarpour A, et al. Clin Genet. 2006;70(4):330-5. doi:10.1111/j.1399-0004.2006.00687.x. PMID: 16965327.
  • Ghalamkarpour A, Holnthoner W, Saharinen P, Boon LM, Mulliken JB, Alitalo K, Vikkula M. Recessive primary congenital lymphoedema caused by a VEGFR3 mutation. J Med Genet. 2009;46(6):399-404. doi:10.1136/jmg.2008.064469. Epub 2009 Mar 15. PMID: 19289394.
  • Ghalamkarpour A, Debauche C, Haan E, Van Regemorter N, Sznajer Y, Thomas D, Revencu N, Gillerot Y, Boon LM, Vikkula M. Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2. J Pediatr. 2009;155(1):90-3. doi:10.1016/j.jpeds.2009.02.023. Epub 2009 Apr 25. PMID: 19394045.
  • Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Alders M, et al. Nat Genet. 2009;41(12):1272-4. doi:10.1038/ng.484. PMID: 19935664.
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:
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 *
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Additional Information

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