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Diagnosis of pseudoxanthoma elasticum (ABCC6 gene)

  • Phone : 33 (0)1 56 09 38 81
  • Additional Phone : -
  • Fax : 33 (0)1 56 09 38 84
  • Website
Last update: January 2019

Responsible of diagnostic test


Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

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