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 21/06/2009
  • Kaplan Molecular Genetics Laboratory
  • Kaplan Institute of Clinical Genetics
  • Kaplan Medical Center
  • Pasternak St., P.O.B 1
  • REHOVOT 76100
  • Director of laboratory : Dr Avinoam KAFTORI
  • More information
  • Phone : 972(0)89441750
  • Additional Phone : -
  • Fax : 972(0)89441572
  • Website
Last update: June 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)
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.