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
  • 82152 MARTINSRIED/PLANEGG
  • GERMANY
  • 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

Purpose(s)

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)

List of diseases and genes

List of diseases tested (17)
Achondrogenesis type 2
Familial avascular necrosis of femoral head
Hypochondrogenesis
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia with metatarsal shortening
Spondyloepiphyseal dysplasia, Stanescu type
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia-short ulna syndrome
Stickler syndrome type 1
List of genes tested (including panels) (1)
COL2A1

Additional information

Quality management

EQA  EQA

EQA scheme(s) organized by GenQA

Skeletal dysplasia
2019, 2021
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.