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Diagnosis of pseudohypoparathyroidism (GNAS gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 13/11/2018
  • Grupo de investigacin en gentica y control de diabetes y enfermedades endocrinas
  • Instituto de Investigacin sanitaria Biocruces Bizkaia
  • Hospital Universitario Cruces, Plaza de Cruces s/n
  • 48903 BARAKALDO
  • SPAIN
  • Director of laboratory : Dr Luis CASTAO GONZLEZ
  • More information
  • Phone : 34 94 600 6000
  • Additional Phone : -
  • Fax : -
  • Website
Last update: November 2018

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing
Uniparental disomy study
Microsatellite analysis
Methylation analysis
MLPA based techniques
Deletion / Duplication analysis
MLPA based techniques

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.