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Molecular diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 01/09/2017
  • S.O.D. Diagnostica Genetica
  • D.A.I. Laboratorio
  • Azienda Ospedaliero Universitaria Careggi
  • Largo Brambilla 3
  • 50134 FIRENZE
  • ITALY
  • Director of laboratory : Dr Elisabetta PELO
  • More information
  • Phone : 39 055 7949363
  • Additional Phone : 39 055 7949037
  • Fax : 39 055 7949686
  • Website
  • Contact
Last update: September 2017

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Newborn screening

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (1)
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.