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Diagnosis of progressive familial intrahepatic cholestasis type 3 (ABCB4 gene)

  • Fdration de Biologie mdicale
  • Hpital d'Instruction des Armes Bgin
  • 69 avenue de Paris
  • 94160 SAINT-MAND
  • FRANCE
  • Director of laboratory : Pr Franck CEPPA
  • More information
  • Phone : 33 (0)1 43 98 47 12
  • Additional Phone : 33 (0)1 43 98 47 34
  • Fax : 33 (0)1 43 98 54 61
  • Contact
Last update: February 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing

List of diseases and genes

List of genes tested (including panels) (1)
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