Orphanet: Diagn�stico de la malformaci�n capilar malformaci�n arteriovenosa gen RASA1
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Diagnosis of capillary malformation-arteriovenous malformation (RASA1 gene)

  • Centro de estudios genticos ATG Medical
  • Centro de estudios genticos ATG Medical
  • Calle Santiago Grisola, 2
  • 28760 TRES CANTOS
  • SPAIN
  • Director of laboratory : Dr Ral SANZ ROJO
  • More information
  • Phone : 34 911267824
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis
Somatic genetics
Risk assessment
Newborn screening

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
PCR based techniques
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
PCR based techniques
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of genes tested (including panels) (1)

Additional information

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.