Orphanet: Diagnostik COL2A1 Gen assoziierter Krankheiten Stickler Syndroms Typ 1, spondyloepiphys�re Dysplasie, Kniest Dysplasie u.a.

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Diagnosis of COL2A1 gene-associated diseases (Stickler syndrome type 1, spondyloepiphyseal dysplasia, Kniest dysplasia and others)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 01/10/2012
  • Gemeinschaftspraxis fr Humangenetik Dres. Bier, Krger und Reif
  • Gemeinschaftspraxis fr Humangenetik
  • Gutenbergstr. 5
  • 01307 DRESDEN
  • Director of laboratory : Dr Stefan KRUEGER
  • More information
  • Phone : 49 (0)351 44 66 340
  • Additional Phone : -
  • Fax : 49 (0)351 44 66 3415
  • Website
  • Contact
Last update: October 2012

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (1)
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.