Orphanet: Diagnosi biochimica e molecolare delle mucolipidosi tipo 2 e 3 geni GNPTAB, GNPTG
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Biochemical and molecular diagnosis of mucolipidosis type 2 and 3 (GNPTAB, GNPTG genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 16/05/2011
  • Centro di diagnostica genetica e biochimica delle malattie metaboliche
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • Largo G. Gaslini 5
  • 16147 GENOVA
  • ITALY
  • Director of laboratory : Dr Mirella FILOCAMO
  • More information
  • Phone : 39 010 56362792
  • Additional Phone : -
  • Fax : 39 010 383983
  • Website
  • Contact
Last update: May 2011

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
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Biochemical genetics
Analyte / Enzyme assay
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List of diseases and genes

List of diseases tested (2)
List of genes tested (including panels) (2)
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.