Parkes-Weber syndrome consists of the association of multiple cutaneous capillary malformations (typically in the face, extremities, or trunk) with malformations and high-flow arteriovenous micro- or macro-fistulas (mainly in the face and brain) together with skeletal or soft tissue hypertrophy of the affected or adjacent territory. Complications such as abnormal bleeding or heart failure may be associated with this entity.
The incidence in the population is unknown (ORPHA:90307)
The capillary malformation – arteriovenous malformation phenotype is related to the two genes contemplated in this service, RASA1 and EPHB4. Simultaneous exome analysis from a blood sample is the best strategy to find the genetic cause in patients.
The benefits derived from a genetic diagnosis are aimed at closing the diagnosis and family genetic counseling.
1) Download & fill out
Please cover as many fields as possible in both documents
2) Sample collection
See sample types in the guidelines
3) Pack the sample
Please pack the sample in a way to prevent leakage
4) Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5) Result: the report
Via: e-mail and/or through the customer portal
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Turnaround time (TAT): 25 days
Ref. S-202314151
Virtual panel based on whole exome sequencing, aimed at the analysis of all high-evidence genes related to capillary malformation – arteriovenous malformation.
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.
Capillary malformation – arteriovenous malformation
