Orphanet: Molekulare Diagnostik der Achondrogenesie COL2A1 und SLC26A2 Gen
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Molecular diagnosis of achondrogenesis (COL2A1 and SLC26A2 genes)

  • Phone : +43 (0)1 9580164
  • Additional Phone : -
  • Fax : +43 (0)1 8907943
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Last update: December 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (2)
List of genes tested (including panels) (2)
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.