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Molecular diagnosis of Borjeson-Forssman-Lehmann syndrome (PHF6 gene: sequencing, MLPA)

  • Phone : 49 (0)731 500 65400
  • Additional Phone : 49 (0)731 500 65410
  • Fax : 49 (0)731 500 65402
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Last update: February 2012

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques

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.