Carried by: FAVAMULTI
References:
Clinician(s): Anouk BISDORFF-BRESSON, Laurent SPELLE
Biologist(s): Florence COULET
Presentation
Cerebral, spinal and isolated superficial arteriovenous malformations (AVMs) in children and familial AVMs in adults that cannot be explained by genetic panel testing on validated genes.
Unexplained forms may benefit from HTS for constitutional or somatic analysis.
Criteria before considering a discussion in MDM-FMG
- Presence of superficial AVM in children or adults, associated with skin lesions and/or spinal/cerebral AVM.
- Samples from parents must be available for trio HTS analysis as a first-line test.
- If negative, as a second step, or immediately in the case of isolated and localised VAS: WGS of affected tissue (always 30X) with duo analysis with previously sequenced WGS data from the patient’s blood.
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact
MDM Superficial vascular abnormalities
National
Paris
Annouck Bisdorff-Bresson