Orphanet: Diagn�stico molecular de la mucolipidosis tipo II gen GNPTAB mutaci�n c.3505_3504delTC y secuenciaci�n completa
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Molecular diagnosis of mucolipidosis type II (GNPTAB gene / Mutation scanning (c.3505_3504delTC) and Sequence analysis entire coding region)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 02/11/2015
  • Reference Laboratory Genetics
  • Reference Laboratory Genetics
  • Calle Pablo Iglesias 57
  • 08908 L'HOSPITALET DE LLOBREGAT
  • SPAIN
  • Director of laboratory : -
  • More information
  • Phone : 34 932593700
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: November 2015

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
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Sequence analysis: entire coding region
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List of diseases and genes

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