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Diagnosis of familial porencephaly (COL4A1 and COL4A2 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 15/04/2014
  • SYNLAB Medizinisches Versorgungszentrum Humangenetik Freiburg GmbH
  • Synlab MVZ Freiburg GmbH
  • Heinrich-von-Stephan-Str. 5
  • 79100 FREIBURG
  • GERMANY
  • Director of laboratory : Pr Jrgen KOHLHASE
  • More information
  • Phone : 49 (0)761 896454 0
  • Additional Phone : -
  • Fax : 49 (0)761 896454 9
  • Website
  • Contact
Last update: April 2014

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 (1)
List of genes tested (including panels) (2)

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.