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Diagnosis of Thoracic Aortic Aneurysm and/or Dissection (FBN1, TGFBR1, TGFBR2, ACTA2, MYLK, SMAD3, TGFB2 and MYH11 gene)

  • Laboratorium voor Genoomdiagnostiek
  • Afdeling Klinische Genetica
  • Amsterdam UMC, locatie VUmc
  • De Boelelaan 1117
  • 1081 HV AMSTERDAM
  • NETHERLANDS
  • Director of laboratory : Dr E.A. [Erik] SISTERMANS
  • More information
  • Phone : +31 (0)20 444 8346
  • Additional Phone : -
  • Fax : +31 (0)20 444 8293
  • Website
  • Contact
Last update: July 2019

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
NGS sequencing (except WES)
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)

List of diseases and genes

List of genes tested (including panels) (8)

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.