Orphanet: Molecular diagnosis of Stickler syndrome COL2A1 and COL11A1 genes gene panel FBN1, ACTA2, SMAD3, TGFBR1, TGFBR2, TGFB2, TGFB3, MYH11, FBN2, MYLK, COL1A1, COL1A2, COL3A1, COL5A1, COL2A1, COL5A2, PLOD1, TNXB, SLC2A10, COL11A1, ELN exome sequencing
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Molecular diagnosis of Stickler syndrome (COL2A1 and COL11A1 genes; gene panel FBN1, ACTA2, SMAD3, TGFBR1, TGFBR2, TGFB2, TGFB3, MYH11, FBN2, MYLK, COL1A1, COL1A2, COL3A1, COL5A1, COL2A1, COL5A2, PLOD1, TNXB, SLC2A10, COL11A1, ELN; exome sequencing)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 13/01/2015
  • Institut für Medizinische Genetik
  • Universität Zürich
  • Wagistrasse 12
  • 8952 SCHLIEREN
  • SWITZERLAND
  • Director of laboratory : Pr Anita RAUCH
  • More information
  • Phone : 0041 (0)44 556 33 00
  • Additional Phone : -
  • Fax : 0041 (0)44 556 33 01
  • Website
  • Contact
Last update: January 2015

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
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NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (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.