Orphanet: Diagn�stico del s�ndrome de malformaci�n capilar malformaci�n arteriovenosa gen RASA1
x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of capillary malformation-arteriovenous malformation syndrome (RASA1 gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 23/06/2017
  • Unidad de Diagnstico Gentico del Cncer Hereditario
  • Fundaci Institut d'Investigaci en Cincies de la Salut Germans Trias i Pujol
  • Carretera de Can Ruti. Cam de les escoles s/n
  • 08916 BADALONA
  • SPAIN
  • Director of laboratory : -
  • More information
  • Phone : 34 93 497 86 55
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: June 2017

Responsible of diagnostic test

Purpose(s)

Pre-implantation diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of genes tested (including panels) (1)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.