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Diagnosis of pseudohypoparathyroidism (GNAS gene)

  • SMeL Specializzato in Citogenetica e Genetica
  • Dipartimento Laboratorio
  • ASST Cremona
  • Via Concordia 1
  • 26100 CREMONA
  • Director of laboratory : Dr Barbara RIBOLI
  • More information
  • Phone : +39 0372 405217
  • Additional Phone : +39 0372 405783
  • Fax : +39 0372 433999
  • Website
  • Contact
Last update: March 2023

Responsible of diagnostic test


Post-natal diagnosis
Newborn screening

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
NGS sequencing (except WES)
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

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.