Orphanet: Diagnostik COL2A1 Gen assoziierter Krankheiten

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Diagnosis of COL2A1 gene-associated diseases

Despite our efforts to ensure that data is up to date, this activity has not been validated since 28/03/2018
  • Abteilung Molekulargenetik
  • Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ) Dr. Klein, Dr. Rost und Kollegen
  • MVZ Martinsried GmbH
  • Lochhamer Str. 29
  • Director of laboratory : Dr Imma ROST
  • More information
  • Phone : 49 (0)89 89 55 78 0
  • Additional Phone : -
  • Fax : 49 (0)89 89 55 78 780
  • Website
  • Contact
Last update: March 2018

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

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

Quality management


EQA scheme(s) organized by GenQA

Skeletal dysplasia
2019, 2021
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