Orphanet: Molecular diagnosis of Mucolipidosis Type IV MCOLN1, Mutation analysis, Carrier screening

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Molecular diagnosis of Mucolipidosis Type IV (MCOLN1, Mutation analysis, Carrier screening)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 14/04/2009
  • Simon Winter Molecular Genetic Laboratory
  • Simon Winter Institute for Human Genetics
  • The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
  • 47 Eliyahu Golomb, P.O. Box 4940
  • HAIFA 31048
  • Director of laboratory : Dr Vardit ADIR
  • More information
  • Phone : 972(0)48359851
  • Additional Phone : -
  • Fax : 972(0)48359849
  • Website
Last update: April 2009

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics

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.