Orphanet: Molecular diagnosis of Mucolipidosis type 3 alphabetagamma GNPTAB and GNPTG gene
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Molecular diagnosis of Mucolipidosis type 3 alpha/beta/gamma (GNPTAB and GNPTG gene)

  • Sectie DNA diagnostiek
  • Afdeling Klinische Genetica
  • Erasmus MC, Faculteitsgebouw
  • Dr. Molewaterplein 50
  • 3015 GE ROTTERDAM
  • NETHERLANDS
  • Director of laboratory : Dr E.H. [Lies] HOEFSLOOT
  • More information
  • Phone : +31 (0)10 704 3197
  • Additional Phone : -
  • Fax : +31 (0)10 704 3200
  • Website
  • Contact
Last update: March 2017

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (1)
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.