Orphanet: Molecular Diagnosis of Loeys Deitz Syndrome TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD3, SMAD4 sequencing TGFBR1, TGFBR2 MLPA
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Molecular Diagnosis of Loeys Deitz Syndrome (TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD3, SMAD4 sequencing; TGFBR1, TGFBR2 MLPA)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 26/04/2016
  • Children's Hospital of Eastern Ontario Molecular Genetics Diagnostic Laboratory
  • Children's Hospital of Eastern Ontario
  • 401 Smyth Road
  • K1H 8L1 OTTAWA
  • CANADA
  • Director of laboratory : Dr Olga JARINOVA
  • More information
  • Phone : 1(613)737-7600 ext 3230
  • Additional Phone : -
  • Fax : 1(613)738-4814
  • Website
Last update: April 2016

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (6)

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.