A syndrome consisting of low-flow vascular malformations of the capillary, venous, and/or lymphatic type in any region of the skin surface but more frequently located in the legs and buttocks or on the trunk. The distribution is usually unilateral but can also be bilateral. Vascular malformations are associated with overgrowth of bone tissue and/or soft tissues, typically of one of the lower extremities.
Klippel-Trenaunay: <1 / 1,000,000 (ORPHA:90308)
The syndrome is caused by somatic, postzygotic mutations in the PIK3CA gene with a mosaic pattern. Therefore, the analysis of PIK3CA from a sample of affected tissue is the best way to study the disease.
The benefits derived from a genetic diagnosis in this context are aimed at closing the diagnosis and being able to carry out adequate genetic counseling in families. Likewise, genetic confirmation is the appropriate argument to justify the administration of a PI3K inhibitor.
1) Download & fill out
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2) Sample collection
See sample types in the guidelines
3) Pack the sample
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4) Send the sample & the request
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5) Result: the report
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Turnaround time (TAT): 25 days
Ref. S-202211903
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
