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Diagnosis of progressive familial intrahepatic cholestasis type 1 (ATP8B1 gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 25/07/2017
  • Instituto de Medicina Genmica
  • IMEGEN - Delegacin Mlaga
  • Avenida de Andaluca 27, edificio Jbega IV, locales 2 y 3
  • 29006 MLAGA
  • SPAIN
  • Director of laboratory : Dr Juan LPEZ SILES
  • More information
  • Phone : 34 95 265 76 05
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: July 2017

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
NGS sequencing (except WES)

List of diseases and genes

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